19. ライソゾーム病 Lysosomal storage disease Clinical trials / Disease details
臨床試験数 : 899 / 薬物数 : 684 - (DrugBank : 99) / 標的遺伝子数 : 51 - 標的パスウェイ数 : 182
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT05710367 (ClinicalTrials.gov) | August 2023 | 10/1/2023 | Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients | Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients; A Prospective, Randomized, Double-Blind, Placebo- Controlled Study. | Fabry Disease | Drug: Dapagliflozin 10mg Tab;Drug: Placebo | Albina Nowak, MD | NULL | Not yet recruiting | 18 Years | 70 Years | All | 46 | Phase 2 | NULL |
| 2 | NCT05698901 (ClinicalTrials.gov) | March 31, 2023 | 16/1/2023 | Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease | Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease | Fabry Disease | Drug: Agalsidase beta | Mackay Memorial Hospital | NULL | Not yet recruiting | 18 Years | N/A | All | 150 | NULL | |
| 3 | NCT05238324 (ClinicalTrials.gov) | March 2023 | 7/12/2021 | Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II | A Phase 1 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-203 in ERT-Treated Adults With Mucopolysaccharidosis Type II (MPS II) (juMPStart Trial) | Mucopolysaccharidosis II | Biological: Genetic HMI-203 | Homology Medicines, Inc | NULL | Recruiting | 18 Years | 45 Years | Male | 9 | Phase 1 | United States;Canada |
| 4 | NCT05710692 (ClinicalTrials.gov) | March 2023 | 13/12/2022 | Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease | A Multicenter Open-Label Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Pegunigalsidase Alfa (PRX-102) in Japanese Patients With Fabry Disease (RISE) | Fabry Disease | Drug: PRX-102 1 mg/kg every 2 weeks;Drug: PRX-102 2 mg/kg every 4 weeks | Chiesi Farmaceutici S.p.A. | NULL | Not yet recruiting | 18 Years | 60 Years | All | 18 | Phase 2/Phase 3 | NULL |
| 5 | NCT05594992 (ClinicalTrials.gov) | February 22, 2023 | 6/10/2022 | An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male Subjects | An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male Subjects | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Enrolling by invitation | N/A | N/A | Male | 80 | Phase 3 | United States |
| 6 | NCT05739643 (ClinicalTrials.gov) | February 3, 2023 | 13/2/2023 | Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated in the Past With HSCT | A Phase 1b Clinical Study of Intravenous AAVrh10 Vector Expressing GALC in Krabbe Subjects Who Previously Received Hematopoietic Stem Cell Transplantation (REKLAIM) | Krabbe Disease | Biological: FBX-101 | Forge Biologics, Inc | NULL | Recruiting | N/A | N/A | All | 12 | Phase 1/Phase 2 | United States |
| 7 | NCT05665166 (ClinicalTrials.gov) | February 2023 | 7/12/2022 | Autologous Ex-vivo Gene Modified HSCT in MPSII | A Phase I/II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11B Lentiviral Vector Encoding Human IDS Tagged With ApoEII in Patients With Neuronopathic Mucopolysaccharidosis Type II (nMPS II, Hunters Syndrome) | Mucopolysaccharidosis II | Genetic: Autologous CD34+ HSCs transduced ex vivo with CD11B LV encoding human IDS tagged with ApoEII | University of Manchester | Manchester University NHS Foundation Trust;AVROBIO;CTI Clinical Trial and Consulting Services;Great Ormond Street Hospital for Children NHS Foundation Trust | Not yet recruiting | 3 Months | 12 Months | Male | 5 | Phase 1/Phase 2 | NULL |
| 8 | NCT05682144 (ClinicalTrials.gov) | January 15, 2023 | 12/12/2022 | ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I | A Phase I Open Label Study to Evaluate the Safety and Tolerability of ISP-001 in Adult Patients With Mucopolysaccharidosis Type I Hurler-Scheie and Scheie | Mucopolysaccharidosis IH/S;Mucopolysaccharidosis IS | Biological: Autologous Plasmablasts (B cells) | Immusoft Corporation | NULL | Not yet recruiting | 18 Years | N/A | All | 2 | Phase 1 | United States |
| 9 | NCT05529992 (ClinicalTrials.gov) | January 3, 2023 | 2/9/2022 | A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease | A Multicenter, Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Velaglucerase Alfa in Chinese Subjects With Type 1 Gaucher Disease | Gaucher Disease | Drug: Velaglucerase Alfa | Takeda | NULL | Recruiting | 2 Years | N/A | All | 20 | Phase 3 | China |
| 10 | EUCTR2021-002550-82-NL (EUCTR) | 22/12/2022 | 30/07/2022 | Effectiveness of ambroxol for treating children and adults with Gaucher disease type 3 | Effectiveness of ambroxol in children and adults with Gaucher disease 3: n-of-1 series - ATTACK-GD3 | Gaucher disease type 3 MedDRA version: 20.0;Level: HLGT;Classification code 10027424;Term: Metabolic and nutritional disorders congenital;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Ambroxol hydrochloride INN or Proposed INN: AMBROXOL Hydrochloride Other descriptive name: Mucoangin Product Name: Ambroxol hydrochloride INN or Proposed INN: AMBROXOL HYDROCHLORIDE Other descriptive name: AMBROXOL HYDROCHLORIDE PH. EUR. | Amsterdam UMC | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 4 | Phase 3 | Netherlands | ||
| 11 | NCT05487599 (ClinicalTrials.gov) | December 20, 2022 | 1/6/2022 | A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) | An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED) | Gaucher Disease | Biological: LY3884961;Drug: Methylprednisolone;Drug: Sirolimus;Drug: Prednisone | Prevail Therapeutics | Eli Lilly and Company | Recruiting | 18 Years | 50 Years | All | 15 | Phase 1/Phase 2 | United States |
| 12 | EUCTR2022-002762-33-DE (EUCTR) | 12/12/2022 | 21/09/2022 | Phase3B/4 extension study to Further Evaluate Safety, Tolerability and Efficacy of AX 250 in Patients with MPS Type IIIB | A Phase 3B/4 Open-Label Multicenter Study Extension Study to Further Evaluate Safety, Tolerability and Efficacy of Intracerebroventricular AX 250 Treatment in Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Patients | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: AX 250 INN or Proposed INN: Tralesinidase alfa Other descriptive name: rhNAGLU-IGF2 | Allievex Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 15 | Phase 3;Phase 4 | Turkey;Colombia;Germany;United Kingdom;United States | ||
| 13 | NCT05492799 (ClinicalTrials.gov) | December 2, 2022 | 5/8/2022 | Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE | Open-Label Multicenter Extension Study to Further Evaluate Safety, Tolerability and Efficacy of Intracerebroventricular AX 250 Treatment in Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Patients | MPS III B | Drug: AX 250 | Allievex Corporation | NULL | Enrolling by invitation | N/A | N/A | All | 15 | Phase 4 | United States;Colombia;Germany;Turkey;United Kingdom |
| 14 | NCT04637282 (ClinicalTrials.gov) | December 1, 2022 | 4/11/2020 | Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3 | A Randomized. Multicenter, Double-Blind, Placebo-Controlled Safety, Tolerability, and Efficacy Study of PLX-200 in Participants With Mild-to-Moderate Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) Disease | Juvenile Neuronal Ceroid Lipofuscinosis | Drug: PLX-200;Drug: Placebo | Polaryx Therapeutics, Inc. | NULL | Not yet recruiting | 6 Years | 18 Years | All | 39 | Phase 3 | NULL |
| 15 | NCT04284254 (ClinicalTrials.gov) | December 2022 | 11/11/2019 | MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablasts for Hurler Syndrome Post Allo HSCT | Sleeping Beauty Transposon-Engineered Plasmablasts for Expression and Delivery of Alpha-L-iduronidase in Patients With Hurler Syndrome That Have Previously Undergone Allogeneic Transplantation | Mucopolysaccharidosis Type IH (MPS IH, Hurler Syndrome);Mucopolysaccharidosis Type IH;MPS IH, Hurler Syndrome | Drug: Autologous Plasmablasts | Masonic Cancer Center, University of Minnesota | NULL | Withdrawn | 3 Years | 8 Years | All | 0 | Phase 1/Phase 2 | NULL |
| 16 | NCT05634512 (ClinicalTrials.gov) | November 17, 2022 | 22/11/2022 | Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH. | Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH. | Hematopoietic Cell Transplantation;Mucopolysaccharidosis Type I | Drug: Laronidase therapy and a stem cell transplant | Masonic Cancer Center, University of Minnesota | NULL | Enrolling by invitation | 0 Years | 3 Years | All | 24 | United States | |
| 17 | NCT05067868 (ClinicalTrials.gov) | November 1, 2022 | 24/9/2021 | A Study of Replagal in Children and Adults With Fabry Disease in India | A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Agalsidase Alfa (r-DNA Origin) (Replagal™) in Indian Children and Adults With Fabry Disease | Fabry Disease | Biological: Replagal | Shire | NULL | Recruiting | N/A | N/A | All | 5 | Phase 4 | India |
| 18 | NCT04020055 (ClinicalTrials.gov) | October 31, 2022 | 24/6/2019 | A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease | An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects With Fabry Disease and Amenable GLA Variants and Severe Renal Impairment or End-Stage Renal Disease Treated With Hemodialysis | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | NULL | Recruiting | 18 Years | N/A | All | 14 | Phase 3 | United States;Australia;France;Japan;Spain;Belgium;Italy;United Kingdom |
| 19 | NCT05629559 (ClinicalTrials.gov) | October 16, 2022 | 4/11/2022 | 4D-310 in Adults With Fabry Disease and Cardiac Involvement | An Open-Label, Phase 1/2a Trial of Gene Therapy 4D-310 in Adults With Fabry Disease and Cardiac Involvement | Fabry Disease | Biological: 4D-310 | 4D Molecular Therapeutics | NULL | Active, not recruiting | 18 Years | N/A | All | 18 | Phase 1/Phase 2 | Australia;Taiwan |
| 20 | EUCTR2018-004689-32-FI (EUCTR) | 12/10/2022 | 17/08/2021 | Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | REPLAGAL is intended for use for patients with Fabry disease. MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: REPLAGAL ® Product Name: REPLAGAL Product Code: SHP675 INN or Proposed INN: AGALSIDASE ALFA Other descriptive name: Gene Activated a-Galactosidase A | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 45 | Phase 3 | Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Australia;Latvia;Germany;Sweden;Bosnia and Herzegovina | ||
| 21 | NCT05422482 (ClinicalTrials.gov) | September 20, 2022 | 31/5/2022 | A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS ? | Phase 1, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS ? Who Have Central Nervous System Involvement and Are Receiving Treatment With Intravenous Drug | Mucopolysaccharidosis II;Hunter Syndrome | Biological: GC1123 | GC Biopharma Corp | NULL | Recruiting | 18 Months | 18 Years | All | 12 | Phase 1 | Korea, Republic of |
| 22 | EUCTR2021-005200-35-CZ (EUCTR) | 05/08/2022 | 24/05/2022 | Study to determine effectiveness and safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Hunter Syndrome | A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II | Mucopolysaccharidosis Type II [MPS II];Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: DNL310 Product Code: DNL310 INN or Proposed INN: DNL310 Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR Trade Name: Idursulfase (Elaprase) Product Name: idursulfase (ELAPRASE) INN or Proposed INN: Idursulfase Other descriptive name: Purified form of the lysosomal enzyme iduronate-2-sulfatase | Denali Therapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 54 | Phase 2;Phase 3 | Colombia;Argentina;United States;Czechia;United Kingdom;Spain;Canada;Czech Republic;Sweden;Netherlands;Turkey;Belgium;Brazil;Mexico;Italy;Australia;France;Germany | ||
| 23 | NCT05371613 (ClinicalTrials.gov) | July 21, 2022 | 9/5/2022 | A Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II) | A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II | Mucopolysaccharidosis II | Drug: DNL310;Drug: Idursulfase | Denali Therapeutics Inc. | NULL | Recruiting | 2 Years | 16 Years | All | 54 | Phase 2/Phase 3 | United States;Belgium;Canada;Czechia;France;Germany;Netherlands;Spain;Sweden;United Kingdom |
| 24 | JPRN-jRCT2071220022 | 14/07/2022 | 25/06/2022 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy | Fabry's disease | Drug: Venglustat (GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Agalsidase alfa Pharmaceutical form: Concentrate for solution for infusion, Route of administration: IV infusion Drug: Agalsidase beta (GZ419828) Pharmaceutical form: Powder for concentrate for solution for infusion, Route of administration: IV infusion Drug: Migalastat Pharmaceutical form: Hard capsules, Route of administration: Oral | Tanaka Tomoyuki | NULL | Recruiting | >= 18age old | <= 65age old | Both | 90 | Phase 3 | China;Italy;Republic of Korea;Japan |
| 25 | NCT05163288 (ClinicalTrials.gov) | June 30, 2022 | 6/12/2021 | A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C | Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study | Niemann-Pick Disease, Type C | Drug: N-Acetyl-L-Leucine;Other: Placebo | IntraBio Inc | NULL | Active, not recruiting | 4 Years | N/A | All | 53 | Phase 3 | United States;Australia;Czechia;Germany;Netherlands;Slovakia;Switzerland;United Kingdom |
| 26 | EUCTR2021-002320-20-NL (EUCTR) | 21/06/2022 | 16/03/2022 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT | Fabry’s disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Trade Name: Replagal INN or Proposed INN: Agalsidase alfa Trade Name: Fabrazyme INN or Proposed INN: Agalsidase beta Trade Name: Galafold INN or Proposed INN: Migalastat Other descriptive name: Galafold | sanofi-aventis recherche et développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Norway;Netherlands;Germany;China;Japan;Korea, Republic of | ||
| 27 | NCT04820361 (ClinicalTrials.gov) | June 15, 2022 | 8/12/2020 | Effect of Cannabinoids on Pain in Fabry Disease Patients | Effect of Cannabinoids on Pain in Fabry Disease Patients; a Prospective, Randomized, Double-blind, Placebo-controlled, Crossover, Multicenter Study | Pain, Neuropathic | Drug: Cannabis sativa L., folium cum flore;Drug: Placebo | Albina Nowak, MD | Swiss National Science Foundation | Not yet recruiting | 18 Years | 70 Years | All | 22 | N/A | NULL |
| 28 | NCT05359276 (ClinicalTrials.gov) | June 10, 2022 | 28/4/2022 | Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France | Acid Sphingomyelinase Deficiency (ASMD): Data Analysis of Adult and Pediatric Patients on Early Access to Olipudase Alfa in France | Acid Sphingomyelinase Deficiency (ASMD) | Drug: Olipudase alfa | Sanofi | NULL | Recruiting | N/A | N/A | All | 55 | France | |
| 29 | EUCTR2020-003200-14-DE (EUCTR) | 16/05/2022 | 15/06/2021 | A Phase III study of JR-141 in Hunter Syndrome patients | A Phase III study of JR-141 in Mucopolysaccharidosis type II (Hunter Syndrome) patients. | Mucopolysaccharidosis type II MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Pabinafusp alfa Product Code: JR-141 INN or Proposed INN: Pabinafusp alfa Other descriptive name: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 50 | Phase 3 | France;United States;Brazil;Germany;United Kingdom | ||
| 30 | EUCTR2021-002320-20-DK (EUCTR) | 05/05/2022 | 12/11/2021 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT | Fabry’s disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Trade Name: Replagal INN or Proposed INN: Agalsidase alfa Trade Name: Fabrazyme INN or Proposed INN: Agalsidase beta Trade Name: Galafold INN or Proposed INN: Migalastat | sanofi-aventis recherche et développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Germany;Netherlands;Norway;China;Japan;Korea, Republic of | ||
| 31 | EUCTR2020-003200-14-FR (EUCTR) | 04/05/2022 | 17/06/2021 | A Phase III study of JR-141 in Hunter Syndrome patients | A Phase III study of JR-141 in Mucopolysaccharidosis type II (Hunter Syndrome) patients. | Mucopolysaccharidosis type II MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Pabinafusp alfa Product Code: JR-141 INN or Proposed INN: Pabinafusp alfa Other descriptive name: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 50 | Phase 3 | United States;France;Brazil;Germany;United Kingdom | ||
| 32 | NCT05280548 (ClinicalTrials.gov) | May 3, 2022 | 4/3/2022 | A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease | A Randomized, Open-label, Parallel-group, 18-month Phase 3 Study to Evaluate the Effect of Venglustat Compared With Usual Standard of Care on Left Ventricular Mass Index in Participants With Fabry Disease and Left Ventricular Hypertrophy | Fabry's Disease | Drug: Venglustat (GZ402671);Drug: Agalsidase alfa;Drug: Agalsidase beta (GZ419828);Drug: Migalastat | Genzyme, a Sanofi Company | NULL | Recruiting | 18 Years | 65 Years | All | 90 | Phase 3 | China;Czechia;Greece;Italy;Japan;Korea, Republic of;Netherlands;Norway;Spain;Taiwan;Turkey |
| 33 | EUCTR2019-004645-32-DE (EUCTR) | 25/04/2022 | 17/12/2021 | A Long-term Follow-up Study of Fabry Disease Subjects Treated with FLT190 (MARVEL 2) | A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease - Marvel 2 | Fabry disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: FLT190 INN or Proposed INN: NA Other descriptive name: FLT190 | Freeline Therapeutics Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 50 | Phase 2 | France;United States;Denmark;Austria;Norway;Germany;United Kingdom;Italy | ||
| 34 | EUCTR2021-002350-90-AT (EUCTR) | 22/04/2022 | 28/10/2021 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 | Sanofi-Aventis Recherche & Développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 140 | Phase 3 | Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China | ||
| 35 | NCT05058391 (ClinicalTrials.gov) | April 21, 2022 | 24/9/2021 | A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India | A Prospective, Multicenter, Single-arm, Open-label, Interventional Phase IV Study to Evaluate the Safety and Efficacy of Idursulfase (r-DNA Origin) (Elaprase™) in Indian Pediatric and Adult Population With Hunter Syndrome (Mucopolysaccharidosis II) | Hunter Syndrome | Biological: Elaprase | Shire | NULL | Recruiting | N/A | N/A | All | 5 | Phase 4 | India |
| 36 | NCT05222906 (ClinicalTrials.gov) | April 18, 2022 | 20/1/2022 | Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 | A Phase 3, Multicenter, Multinational, Randomized, Double-blind, Double-dummy, Active-comparator Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ERT) | Gaucher's Disease Type III | Drug: Venglustat;Drug: imiglucerase | Genzyme, a Sanofi Company | NULL | Recruiting | 12 Years | N/A | All | 40 | Phase 3 | United States;Argentina;Canada;China;France;Germany;Hungary;Japan |
| 37 | NCT05324943 (ClinicalTrials.gov) | April 15, 2022 | 28/2/2022 | A Gene Therapy Study in Patients With Gaucher Disease Type 1 | A Phase 1/2, Open-label, Safety, Tolerability, and Efficacy Study of FLT201 in Adult Patients With Gaucher Disease Type 1 (GALILEO-1) | Gaucher Disease, Type 1 | Genetic: FLT201 | Freeline Therapeutics | NULL | Recruiting | 18 Years | N/A | All | 18 | Phase 1/Phase 2 | Argentina;Brazil;Germany;Israel;Paraguay;Spain;United Kingdom;Italy;Tunisia |
| 38 | EUCTR2021-002320-20-PL (EUCTR) | 12/04/2022 | 11/01/2022 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - CARAT | Fabry’s disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Trade Name: Replagal INN or Proposed INN: Agalsidase alfa Trade Name: Fabrazyme INN or Proposed INN: Agalsidase beta Trade Name: Galafold INN or Proposed INN: Migalastat | sanofi-aventis recherche et développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Czech Republic;Canada;Poland;Denmark;Norway;Netherlands;Germany;China;Japan;Korea, Republic of | ||
| 39 | EUCTR2021-002320-20-NO (EUCTR) | 11/04/2022 | 12/10/2021 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy | Fabry’s disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Trade Name: Replagal INN or Proposed INN: Agalsidase alfa Trade Name: Fabrazyme INN or Proposed INN: Agalsidase beta Trade Name: Galafold INN or Proposed INN: Migalastat | sanofi-aventis recherche et développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Netherlands;Norway;Germany;China;Japan;Korea, Republic of | ||
| 40 | EUCTR2021-005356-10-NL (EUCTR) | 08/04/2022 | 18/01/2022 | A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type C | Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study | Niemann-Pick Disease type C (NPC) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-acetyl-L-leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 53 | Phase 3 | United States;Czechia;Slovakia;Spain;Australia;Germany;Netherlands;United Kingdom;Switzerland | ||
| 41 | EUCTR2021-002350-90-FI (EUCTR) | 01/04/2022 | 06/10/2021 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 | Sanofi-Aventis Recherche & Développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 140 | Phase 3 | Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China | ||
| 42 | EUCTR2019-000667-24-IT (EUCTR) | 28/03/2022 | 23/09/2021 | A Phase I/II Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fabry Disease | A Phase I/II, Multicenter, Open-Label, SingleDose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease - STAAR | Fabry Disease (X-linked lysosomal storage disease) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant Adeno-associated virus 2/6 vector encoding the cDNA for human alpha galactosidase A Product Code: [ST-920] Other descriptive name: Adeno-associated virus serotype 2/6 encoding human alpha-galactosidase A cDNA Trade Name: PARACETAMOLO DOC GENERICI - 1000 MG COMPRESSA 16 COMPRESSE Product Name: Paracetamolo Product Code: [Paracetamolo] INN or Proposed INN: PARACETAMOLO Trade Name: ALISERIN - 25 MG GRANULATO EFFERVESCENTE 20 BUSTINE Product Name: difenidramina cloridrato Product Code: [difenidramina cloridrato] INN or Proposed INN: DIFENIDRAMINA CLORIDRATO Trade Name: PREDNISONE DOC GENERICI - 5 MG COMPRESSE 10 COMPRESSE IN BLISTER PVC-PVDC/ALU Product Name: Prednisone Product Code: [Prednisone] INN or Proposed INN: PREDNISONE | Sangamo Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 48 | Phase 1;Phase 2 | United States;Taiwan;Canada;Australia;Germany;United Kingdom;Italy | ||
| 43 | EUCTR2021-005402-10-DE (EUCTR) | 23/03/2022 | 05/01/2022 | Study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 | A phase 3, multicenter, multinational, randomized, double-blind, double-dummy, active-comparator study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 (GD3) who have reached therapeutic goals with Enzyme Replacement Therapy (ERT) - LEAP2MONO | Gaucher's disease type III MedDRA version: 24.1;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: venglustat Product Code: SAR402671, GZ402671 or GZ / SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Product Name: venglustat Product Code: SAR402671, GZ402671 or GZ / SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 Trade Name: Cerezyme 400 Units Powder for concentrate for solution for infusion INN or Proposed INN: Imiglucerase | Sanofi-aventis recherche & développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 2 | Phase 3 | Brazil;Germany;China;United States;Taiwan;Turkey;United Kingdom;Egypt;France;Hungary;Canada;Argentina;Japan | ||
| 44 | EUCTR2021-005356-10-SK (EUCTR) | 15/03/2022 | 28/12/2021 | A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type C | Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study | Niemann-Pick Disease type C (NPC) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-acetyl-L-leucine Product Code: IB1001 INN or Proposed INN: N Acetyl L leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 53 | Phase 3 | United States;Czechia;Czech Republic;Slovakia;Australia;Germany;Netherlands;United Kingdom;Switzerland | ||
| 45 | NCT05206773 (ClinicalTrials.gov) | March 11, 2022 | 20/10/2021 | A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Adult Participants With Fabry Disease | A Randomized, Double-blind, Placebo-controlled, 12-month Phase 3 Study to Evaluate the Effect of Venglustat on Neuropathic and Abdominal Pain in Male and Female Adults With Fabry Disease Who Are Treatment-naïve or Untreated for at Least 6 Months | Fabry Disease | Drug: Venglustat (GZ402671);Drug: Placebo | Genzyme, a Sanofi Company | NULL | Recruiting | 18 Years | N/A | All | 114 | Phase 3 | United States;Argentina;Brazil;Canada;China;Finland;Germany;Greece;Italy;Japan;Mexico;Norway;Poland;United Kingdom |
| 46 | EUCTR2021-002350-90-PL (EUCTR) | 08/03/2022 | 28/10/2021 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 | Sanofi-Aventis Recherche & Développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 140 | Phase 3 | France;Mexico;Canada;Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China | ||
| 47 | EUCTR2021-005356-10-DE (EUCTR) | 04/03/2022 | 29/12/2021 | A pivotal study of N-Acetyl-L-Leucine on Niemann-Pick disease type C | Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study | Niemann-Pick Disease type C (NPC);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-acetyl-L-leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 53 | Phase 3 | United States;Czechia;Czech Republic;Slovakia;Spain;Australia;Netherlands;Germany;United Kingdom;Switzerland | ||
| 48 | NCT04771416 (ClinicalTrials.gov) | February 24, 2022 | 23/2/2021 | Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease | A Phase 1/2 Open-Label, Multicenter Dose-Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects With Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) | Leukodystrophy, Globoid Cell | Biological: PBKR03 | Passage Bio, Inc. | NULL | Active, not recruiting | 1 Month | 9 Months | All | 24 | Phase 1/Phase 2 | United States;Brazil;Canada;Israel;Netherlands;United Kingdom |
| 49 | NCT04573023 (ClinicalTrials.gov) | February 14, 2022 | 17/9/2020 | A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II | A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141;Drug: Idursulfase;Drug: JR-141 or Idursulfase | JCR Pharmaceuticals Co., Ltd. | NULL | Recruiting | N/A | N/A | Male | 80 | Phase 3 | United States;Brazil;France;Germany;Spain |
| 50 | NCT05228145 (ClinicalTrials.gov) | January 31, 2022 | 17/12/2021 | Gene Therapy Study for Children With CLN5 Batten Disease | A Phase 1/2 Intracerebroventricular and Intravitreal Administration of NGN-101 for Treatment of Neuronal Ceroid Lipofuscinosis (NCL) Subtype 5 (CLN5) Disease | Neuronal Ceroid Lipofuscinosis CLN5 | Genetic: NGN-101 | Neurogene Inc. | NULL | Recruiting | 3 Years | 9 Years | All | 6 | Phase 1/Phase 2 | United States;United Kingdom |
| 51 | NCT04283227 (ClinicalTrials.gov) | January 17, 2022 | 13/2/2020 | OTL-200 in Patients With Late Juvenile Metachromatic Leukodystrophy (MLD) | An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD). | Lysosomal Storage Diseases;Metachromatic Leukodystrophy | Genetic: OTL-200 | Orchard Therapeutics | Ospedale San Raffaele | Recruiting | N/A | N/A | All | 6 | Phase 3 | Italy |
| 52 | EUCTR2021-002320-20-IT (EUCTR) | 14/01/2022 | 22/10/2021 | A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease | A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy - . | Fabry's disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Fabrazyme Product Name: . Product Code: [.] INN or Proposed INN: AGALSIDASI BETA Trade Name: Galafold Product Name: . Product Code: [.] INN or Proposed INN: Migalastat Trade Name: Replagal Product Name: . Product Code: [.] INN or Proposed INN: AGALSIDASI ALFA Product Name: Venglustat Product Code: [SAR402671, GZ402671 o GZ/SAR402671] INN or Proposed INN: venglustat malato Other descriptive name: GZ/SAR402671 | SANOFI-AVENTIS RECHERCHE E DEVELOPPEMENT | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Taiwan;Greece;Spain;Turkey;Austria;United Kingdom;Italy;France;Canada;Poland;Denmark;Norway;Germany;Netherlands;China;Japan;Korea, Republic of | ||
| 53 | EUCTR2021-000706-21-DE (EUCTR) | 10/12/2021 | 28/06/2021 | A study to evaluate the long-term efficacy and safety of AT-GTX-501 in patients with CLN6 Batten disease, who have received AT-GTX-501 in a previous study. | LONG-TERM FOLLOW-UP OF AT-GTX-501 SCAAV9 GENE TRANSFER IN SUBJECTS WITH CLN6 BATTEN DISEASE | Patients with variant late infantile neuronal ceroid lipofuscinosis associated with mutation(s) in the CLN6 gene (vLINCL6 disease), a subset of patients with CLN6 Batten disease. MedDRA version: 23.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: scAAV9.CB.CLN6 Product Code: AT-GTX-501 INN or Proposed INN: Not yet assigned Other descriptive name: Recombinant self-complementary adeno-associated viral vector serotype 9 containing the human CLN6 gene | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 13 | Phase 1;Phase 2 | United States;Germany | ||
| 54 | EUCTR2018-002097-51-AT (EUCTR) | 02/12/2021 | 24/03/2021 | A Fabry Disease Gene Therapy Study (MARVEL 1) | A Phase 1/2, Baseline-controlled, Non-randomized, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 | Fabry disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: FLT190 INN or Proposed INN: NA Other descriptive name: FLT190 | Freeline Therapeutics Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 15 | Phase 1;Phase 2 | United States;France;Denmark;Austria;Norway;Germany;United Kingdom;Switzerland;Italy | ||
| 55 | NCT05208281 (ClinicalTrials.gov) | November 30, 2021 | 14/10/2021 | A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II | Multicenter, Open-Label, Multi-cohort Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Drug Product GNR 055 (JSC GENERIUM, Russia) in Patients With Mucopolysaccharidosis Type II | Mucopolysaccharidosis Type II;Metabolic Diseases | Drug: GNR-055 1.0-2.0-3.0 mg/kg;Drug: GNR-055 2.0 mg/kg;Drug: GNR-055 3.0 mg/kg | AO GENERIUM | NULL | Recruiting | N/A | N/A | Male | 32 | Phase 2/Phase 3 | Russian Federation |
| 56 | EUCTR2021-002350-90-IT (EUCTR) | 04/11/2021 | 26/01/2022 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - . | Fabry Disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: [SAR402671, GZ402671 o GZ/SAR402671] INN or Proposed INN: Venglustat malato Other descriptive name: GZ/SAR402671 | SANOFI-AVENTIS RECHERCHE E DEVELOPPEMENT | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 140 | Phase 3 | Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China | ||
| 57 | EUCTR2021-002350-90-GR (EUCTR) | 01/11/2021 | 01/11/2021 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12 month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naïve or untreated for at least 6 months - PERIDOT | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: SAR402671, GZ402671 or GZ/SAR402671 INN or Proposed INN: Venglustat malate Other descriptive name: GZ/SAR402671 | Sanofi-Aventis Recherche & Développement | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 140 | Phase 3 | Greece;Finland;Ukraine;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Mexico;Canada;Argentina;Poland;Brazil;Romania;Denmark;Bulgaria;Norway;Netherlands;Germany;China | ||
| 58 | NCT05152914 (ClinicalTrials.gov) | November 1, 2021 | 29/11/2021 | Intravitreal ERT to Prevent Retinal Disease Progression in Children With CLN2 | Intravitreal Enzyme Replacement Therapy to Prevent Retinal Disease Progression in Children With Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) | Neuronal Ceroid Lipofuscinosis Type 2 | Drug: Cerliponase Alfa | David L Rogers, MD | NULL | Enrolling by invitation | 24 Months | 72 Months | All | 5 | Phase 1/Phase 2 | United States |
| 59 | NCT04453085 (ClinicalTrials.gov) | October 28, 2021 | 4/6/2020 | An Extension Study of JR-171-101 Study in Patients With MPS I | An Extension Study of JR-171-101 Study in Patients With Mucopolysaccharidosis Type I | Mucopolysaccharidosis I | Drug: JR-171 (lepunafusp alfa) | JCR Pharmaceuticals Co., Ltd. | NULL | Active, not recruiting | N/A | N/A | All | 14 | Phase 1/Phase 2 | United States;Brazil;Japan |
| 60 | NCT05134571 (ClinicalTrials.gov) | October 28, 2021 | 21/10/2021 | China Post-marketing Surveillance (PMS) Study of Aldurazyme® | A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in China | Mucopolysaccharidosis I | Drug: Laronidase | Genzyme, a Sanofi Company | NULL | Active, not recruiting | 5 Years | N/A | All | 12 | Phase 4 | China |
| 61 | NCT05343715 (ClinicalTrials.gov) | October 23, 2021 | 24/1/2022 | PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion | Comparative Pharmacokinetic and Pharmacodynamic Study Between 2 Agalsidase Beta Formulations at a Single Dose of 1 mg/kg of Agalsidase (Biosidus) and Fabrazyme (Sanofi Genzyme) as Intravenous Infusion in Male Healthy Volunteers | Fabry Disease | Biological: Agalsidase beta from Biosidus 1 mg/kg;Biological: Fabrazyme (agalsidase beta) 1 mg/kg | Bio Sidus SA | NULL | Active, not recruiting | 18 Years | 40 Years | Male | 20 | Phase 1 | Argentina |
| 62 | NCT05054387 (ClinicalTrials.gov) | October 13, 2021 | 9/9/2021 | China Post-marketing Surveillance (PMS) Study of Fabrazyme® | A Phase 4, Open Label, Safety and Efficacy Study of Fabrazyme® (Agalsidase Beta) as Enzyme Replacement Therapy in Chinese Participants With Fabry Disease | Fabry's Disease | Drug: Agalsidase beta | Genzyme, a Sanofi Company | NULL | Completed | 8 Years | N/A | All | 22 | Phase 4 | China |
| 63 | EUCTR2018-004689-32-PL (EUCTR) | 08/10/2021 | 07/10/2021 | Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | Fabry disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: REPLAGAL ® Product Name: REPLAGAL Product Code: SHP675 INN or Proposed INN: AGALSIDASE ALFA Other descriptive name: Gene Activated a-Galactosidase A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 36 | Phase 3 | Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Belgium;Brazil;Romania;Croatia;Australia;Latvia;Germany;Sweden;Bosnia and Herzegovina | ||
| 64 | EUCTR2018-004689-32-GR (EUCTR) | 06/10/2021 | 06/10/2021 | Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | REPLAGAL is intended for use for patients with Fabry disease. MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: REPLAGAL ® Product Name: REPLAGAL Product Code: SHP675 INN or Proposed INN: AGALSIDASE ALFA Other descriptive name: Gene Activated a-Galactosidase A | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 45 | Phase 3 | Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Belgium;Brazil;Poland;Croatia;Romania;Australia;Latvia;Germany;Bosnia and Herzegovina;Sweden | ||
| 65 | EUCTR2018-004689-32-PT (EUCTR) | 24/09/2021 | 11/08/2021 | Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | Fabry disease MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: REPLAGAL ® Product Name: REPLAGAL Product Code: SHP675 INN or Proposed INN: AGALSIDASE ALFA Other descriptive name: Gene Activated a-Galactosidase A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 45 | Phase 3 | Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Belgium;Brazil;Poland;Croatia;Romania;Australia;Latvia;Germany;Bosnia and Herzegovina;Sweden | ||
| 66 | JPRN-jRCT2031210279 | 15/09/2021 | 27/08/2021 | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 | An open label interventional single-patient study to evaluate the safety of olipudase alfa enzyme replacement therapy for the patient in Japan with acid sphingomyelinase deficiency (ASMD) who has completed Study DFI12712 | Acid sphingomyelinase deficiency | Drug: Olipudase alfa (GZ402665) Pharmaceutical form: lyophilized powder, Route of administration: Intravenous (IV) infusion. | Tanaka Tomoyuki | NULL | Not Recruiting | >= 20age old | Not applicable | Both | 1 | Phase 2-3 | Japan |
| 67 | EUCTR2018-004689-32-SE (EUCTR) | 24/08/2021 | 17/08/2021 | Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | A Phase 3, Open-label Study to Evaluate the Efficacy and Safety of REPLAGAL® in Treatment-naïve Subjects with Fabry Disease | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: REPLAGAL ® Product Name: REPLAGAL Product Code: SHP675 INN or Proposed INN: AGALSIDASE ALFA Other descriptive name: Gene Activated a-Galactosidase A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 45 | Phase 3 | Portugal;Slovenia;Greece;Finland;Spain;Ukraine;Italy;Hungary;Canada;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Australia;Germany;Latvia;Sweden;Bosnia and Herzegovina | ||
| 68 | EUCTR2020-005229-95-NL (EUCTR) | 23/08/2021 | 19/03/2021 | Study to assess safety, tolerability and efficacy of PBKR03 in pediatric subjects with Krabbe disease (GALax-C) | A Phase 1/2 Open-Label, Multicenter, Dose Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects with Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy) (GALax-C) - Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects with Early Infantile Krab | Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease (LSD) caused by mutations in the gene encoding the hydrolytic enzyme galactosylceramidase (galactocerebrosidase; GALC) MedDRA version: 20.0;Level: PT;Classification code 10023492;Term: Krabbe's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: PBKR03 INN or Proposed INN: Not available yet Other descriptive name: Adeno-associated virus serotype hu68 containing the human GALC gene | Passage Bio, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 28 | Phase 1;Phase 2 | United States;Canada;Brazil;Israel;Netherlands;United Kingdom | ||
| 69 | NCT05039866 (ClinicalTrials.gov) | August 16, 2021 | 20/8/2021 | Long-Term Follow-up of Subjects Who Were Treated With ST-920 | Long-Term Follow-up of Fabry Disease Subjects Who Were Treated With ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy | Fabry Disease;Fabry Disease, Cardiac Variant | Biological: ST-920 | Sangamo Therapeutics | NULL | Enrolling by invitation | 18 Years | N/A | All | 48 | United States;United Kingdom | |
| 70 | JPRN-jRCT2031210126 | 27/07/2021 | 31/05/2021 | Post-marketing Clinical Study of IZCARGO in Patients with Mucopolysaccharidosis Type II | Post-marketing Clinical Study of IZCARGO in Patients with Mucopolysaccharidosis Type II | mucopolysaccharidosis type II (MPS II) | [Post-marketing clinical study drug] Name - Post-marketing clinical study drug (code): IZCARGO for I.V. infusion 10 mg (test drug code: JR-141) - Nonproprietary name International nonproprietary name (INN): pabinafusp alfa (r-INN List 82, WHO Drug Information, Vol. 33. No. 3, 2019) Japanese accepted names for pharmaceuticals (JAN) Registered number: 301-4-B3 Japanese name: pabinafusp alfa (genetical recombination) English name: Pabinafusp Alfa (Genetical Recombination) Dose and regimen: Subjects will receive 2.0 mg of pabinafusp alfa (genetical recombination) per kilogram of body weight once a week as an intravenous infusion. | Yamamoto Tatsuyoshi | NULL | Recruiting | Not applicable | Not applicable | Both | 20 | Phase 4 | Japan |
| 71 | EUCTR2018-003291-12-GR (EUCTR) | 27/07/2021 | 06/07/2021 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Phase 2 | United States;Greece;Spain;Israel;Italy;United Kingdom;France;Canada;Argentina;Brazil;Belgium;Germany;Netherlands;Japan | ||
| 72 | NCT04877132 (ClinicalTrials.gov) | July 21, 2021 | 3/5/2021 | Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD) | Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD) | Sphingomyelin Lipidosis | Drug: olipudase alfa (GZ402665) | Sanofi | NULL | Approved for marketing | 3 Years | N/A | All | NULL | ||
| 73 | EUCTR2019-002936-97-FR (EUCTR) | 06/07/2021 | 09/02/2021 | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | A Long-term Follow-up Study of Patients with MPS IIIB from Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: Adeno-associated viral vector serotype 9 containing the human N-acetyl-alpha-glucosaminidase gene | Abeona Therapeutics Europe SL. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;France;Germany | ||
| 74 | NCT04532047 (ClinicalTrials.gov) | July 1, 2021 | 19/8/2020 | In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases | In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). | MPS I;MPS II;MPS IVA;MPS VI;Mps VII;Gaucher Disease, Type 2;Gaucher Disease, Type 3;Pompe Disease Infantile-Onset;Wolman Disease | Drug: Aldurazyme (laronidase) | University of California, San Francisco | Duke University | Recruiting | 18 Years | 50 Years | Female | 10 | Phase 1 | United States |
| 75 | JPRN-jRCT2051210024 | 10/06/2021 | 11/05/2021 | Investigation of the Food Effect on the Pharmacokinetics of JT408T | Investigation of the Food Effect on the Pharmacokinetics of JT408T | Improvement of neurological symptoms of Gaucher's disease | 1) After fasting, administer 400 mg of ambroxol hydrochloride orally in a single dose. 2) After meals, administer 400 mg of ambroxol hydrochloride orally in a single dose. | Yutaka Shunichiro | NULL | Complete | >= 20age old | < 35age old | Male | 16 | Phase 1 | Japan |
| 76 | EUCTR2020-003120-17-FR (EUCTR) | 18/05/2021 | 11/03/2021 | Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3 | A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT | Gaucher disease type 3 MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 12 | Phase 2;Phase 3 | United States;Taiwan;Turkey;France;Egypt;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden | ||
| 77 | EUCTR2019-004909-27-NL (EUCTR) | 11/05/2021 | 03/09/2020 | STUDY TO EVALUATE THE SAFETY AND ESTABLISH A SAFE DOSE OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME | A PHASE 1/2, MULTICENTER, OPEN-LABEL STUDY TO DETERMINE THE SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME | Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II]) MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: DNL310 Product Code: DNL310 Drug Substance INN or Proposed INN: Not applicable Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR | Denali Therapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 16 | Phase 1;Phase 2 | United States;Germany;Netherlands;United Kingdom;Italy | ||
| 78 | NCT04273269 (ClinicalTrials.gov) | May 11, 2021 | 21/1/2020 | A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis | An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human ß-Galactosidase cDNA for Treatment of GM1 Gangliosidosis | GM1 Gangliosidosis | Genetic: LYS-GM101 | LYSOGENE | NULL | Active, not recruiting | N/A | 3 Years | All | 16 | Phase 1/Phase 2 | United States;France;United Kingdom |
| 79 | EUCTR2018-002210-12-FR (EUCTR) | 28/04/2021 | 26/10/2018 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;France;Czech Republic;Canada;Belgium;Poland;Austria;Netherlands;Germany;United Kingdom | ||
| 80 | EUCTR2019-002375-34-AT (EUCTR) | 27/04/2021 | 06/12/2019 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850 MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 104 | Phase 3 | United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 81 | EUCTR2018-001148-67-FI (EUCTR) | 16/04/2021 | 28/01/2021 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA Other descriptive name: CHF6657 | Chiesi Farmaceutici S.p.A | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Slovenia;Finland;Spain;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway | ||
| 82 | EUCTR2020-003120-17-DE (EUCTR) | 12/04/2021 | 23/02/2021 | Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3 | A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT | Gaucher disease type 3 MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 12 | Phase 2;Phase 3 | United States;Taiwan;Turkey;Egypt;France;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden | ||
| 83 | EUCTR2020-003120-17-HU (EUCTR) | 06/04/2021 | 24/02/2021 | Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3 | A 3-part study to evaluate the efficacy and safety of venglustat in combination with Cerezyme in adult and pediatric patients with Gaucher disease Type 3 (GD3) with open-label long-term treatment - LEAP2IT | Gaucher disease type 3 MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat malate Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 12 | Phase 2;Phase 3 | United States;Taiwan;Turkey;Egypt;France;Hungary;Canada;Argentina;Brazil;Germany;China;Japan;Sweden | ||
| 84 | EUCTR2018-002210-12-NO (EUCTR) | 26/03/2021 | 22/09/2020 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Norway;Germany;Netherlands | ||
| 85 | NCT04713475 (ClinicalTrials.gov) | March 17, 2021 | 4/1/2021 | Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Subjects With GM1 Gangliosidosis | Phase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Subjects With Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 Gangliosidosis | GM1 Gangliosidosis;GM1 Gangliosidosis, Type I;GM1 Gangliosidosis, Type 2;Beta-Galactosidase-1 (GLB1) Deficiency | Biological: PBGM01 | Passage Bio, Inc. | NULL | Active, not recruiting | 4 Months | 36 Months | All | 20 | Phase 1/Phase 2 | United States;Brazil;Canada;Turkey;United Kingdom |
| 86 | NCT04798235 (ClinicalTrials.gov) | March 12, 2021 | 22/2/2021 | First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis | Phase 1/2, Open-Label Clinical Study to Evaluate the Safety and Efficacy of Intrathecal TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis | Infantile GM2 Gangliosidosis (Disorder) | Biological: TSHA-101 | Dr. Anupam Sehgal | Taysha Gene Therapies, Inc.;GlycoNet | Active, not recruiting | N/A | 15 Months | All | 3 | Phase 1/Phase 2 | Canada |
| 87 | NCT04571970 (ClinicalTrials.gov) | March 11, 2021 | 23/9/2020 | RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome) | A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Children 5 Years of Age and Older With MPS II (Hunter Syndrome) | Mucopolysaccharidosis Type II (MPS II) | Genetic: RGX-121 | REGENXBIO Inc. | NULL | Active, not recruiting | 5 Years | 17 Years | Male | 6 | Phase 1/Phase 2 | United States;Canada |
| 88 | NCT04656600 (ClinicalTrials.gov) | March 2, 2021 | 4/12/2020 | Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type ? | A Single Arm, Prospective, Open Label, Multicenter Study to Evaluate Efficacy and Safety of One-year Maximum Dosage in Chinese Label of Imiglucerase Treatment in Chinese Patients Who Are Diagnosed as Gaucher Disease Type ? | Gaucher's Disease | Drug: Cerezyme® / Imiglucerase | Sanofi | NULL | Recruiting | 2 Years | N/A | All | 12 | Phase 4 | China |
| 89 | EUCTR2018-002984-24-BE (EUCTR) | 11/02/2021 | 02/10/2020 | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old | Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) | Nephropatic Cystinosis patients with corneal cystine crystal deposits MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Trade Name: Cystadrops Product Name: Cystadrops INN or Proposed INN: Cysteamine hydrochloride Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride | Recordati Rare Diseases | NULL | Not Recruiting | Female: yes Male: yes | 5 | Phase 3 | France;Belgium;Germany;Italy;United Kingdom | ||
| 90 | NCT04669535 (ClinicalTrials.gov) | January 15, 2021 | 23/11/2020 | A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | A Two-Stage, Dose-Escalation and Safety & Efficacy Study of Bilateral Intraparenchymal Thalamic and Intracisternal/Intrathecal Administration of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease | Tay-Sachs Disease;Sandhoff Disease | Biological: AXO-AAV-GM2 Starting Dose;Biological: AXO-AAV-GM2 Low Dose;Biological: AXO-AAV-GM2 Middle Dose;Biological: AXO-AAV-GM2 High Dose | Terence Flotte | University of Massachusetts, Worcester;Massachusetts General Hospital | Active, not recruiting | 6 Months | 12 Years | All | 7 | Phase 1 | United States |
| 91 | NCT04031066 (ClinicalTrials.gov) | January 11, 2021 | 17/7/2019 | Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis | A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Group, Phase 3 Study to Evaluate the Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis | Alpha-Mannosidosis | Drug: Velmanase Alfa;Drug: Placebo | Chiesi Farmaceutici S.p.A. | NULL | Withdrawn | N/A | N/A | All | 0 | Phase 3 | NULL |
| 92 | EUCTR2018-002097-51-DK (EUCTR) | 04/12/2020 | 08/07/2019 | A Fabry Disease Gene Therapy Study | A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: FLT190 INN or Proposed INN: NA Other descriptive name: FLT190 | Freeline Therapeutics Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 12 | Phase 1;Phase 2 | United States;France;Spain;Denmark;Norway;Germany;United Kingdom;Italy | ||
| 93 | EUCTR2018-001148-67-IT (EUCTR) | 11/11/2020 | 21/10/2020 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease - na | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: [PRX-102] INN or Proposed INN: PEGUNIGALSIDASE ALFA | PROTALIX LTD | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Slovenia;Finland;Spain;Turkey;United Kingdom;Italy;Switzerland;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Norway | ||
| 94 | NCT04628871 (ClinicalTrials.gov) | November 3, 2020 | 9/11/2020 | Long Term Follow-up (LTFU) of Subjects Who Received SB-318, SB-913, or SB-FIX | Long-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the Liver | Hemophilia B;Mucopolysaccharidosis I;Mucopolysaccharidosis II | Biological: SB-318;Biological: SB-913;Biological: SB-FIX | Sangamo Therapeutics | NULL | Active, not recruiting | 18 Years | N/A | All | 13 | United States | |
| 95 | NCT04655911 (ClinicalTrials.gov) | October 28, 2020 | 17/11/2020 | A Long-term Follow-up Study of Patients With MPS IIIB Treated With ABO-101 | A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) | Mucopolysaccharidosis III-B | Biological: ABO-101 | Abeona Therapeutics, Inc | NULL | Terminated | N/A | N/A | All | 1 | United States;France;Germany | |
| 96 | JPRN-jRCT2021200023 | 27/10/2020 | 09/10/2020 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late onset GM2 gangliosidosis and ultra rare diseases within the same and similar glucosylceramide-based sphingolipid pathway | Tay-Sachs Disease, Sandhoff Disease | Drug: venglustat GZ402671 - Pharmaceutical form: tablet - Route of administration: oral Drug: placebo - Pharmaceutical form: tablet - Route of administration: oral | Tanaka Tomoyuki | NULL | Not Recruiting | >= 2age old | Not applicable | Both | 77 | Phase 3 | Spain;United States;Brazil;Russian Federation;United Kingdom;Argentina;Austria;Czechia;Germany;Italy;Portugal;Turkey;France;Japan |
| 97 | EUCTR2018-002210-12-IT (EUCTR) | 22/10/2020 | 17/06/2021 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease - Not applicable | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: [ACT-434964] INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | IDORSIA PHARMACEUTICALS LTD | NULL | Not Recruiting | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 98 | EUCTR2018-003291-12-IT (EUCTR) | 16/10/2020 | 21/10/2020 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor FunctionClassification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy - ---- | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: -- Product Name: --- Product Code: [SHP611] INN or Proposed INN: Recombinant Human Arylsulfatase A (rhASA) Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | SHIRE HUMAN GENETIC THERAPIES, INC | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Phase 2 | United States;France;Canada;Spain;Brazil;Belgium;Israel;Netherlands;Germany;United Kingdom;Japan;Italy | ||
| 99 | NCT04360265 (ClinicalTrials.gov) | September 28, 2020 | 20/4/2020 | A Long-term Follow-up Study of Patients With MPS IIIA Treated With ABO-102 | A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | Mucopolysaccharidosis III-A | Biological: ABO-102 | Ultragenyx Pharmaceutical Inc | Abeona Therapeutics, Inc | Enrolling by invitation | N/A | N/A | All | 50 | United States;Australia;Spain | |
| 100 | NCT04455230 (ClinicalTrials.gov) | September 8, 2020 | 29/6/2020 | A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 | A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects With Fabry Disease | Fabry Disease;Lysosomal Storage Diseases | Genetic: FLT190 | Freeline Therapeutics | NULL | Enrolling by invitation | 18 Years | N/A | Male | 50 | Phase 1/Phase 2 | Germany;United Kingdom |
| 101 | NCT04519749 (ClinicalTrials.gov) | September 1, 2020 | 14/8/2020 | An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease | An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease | Fabry Disease | Biological: 4D-310 | 4D Molecular Therapeutics | NULL | Active, not recruiting | 18 Years | N/A | All | 18 | Phase 1/Phase 2 | United States |
| 102 | NCT04125927 (ClinicalTrials.gov) | September 1, 2020 | 3/10/2019 | Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2) | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients From 6 Months to Less Than 2 Years Old | Cystinosis | Drug: Mercaptamine | Recordati Rare Diseases | NULL | Recruiting | 6 Months | 2 Years | All | 5 | Phase 3 | Belgium;France;Germany;Italy;United Kingdom |
| 103 | NCT04227600 (ClinicalTrials.gov) | September 1, 2020 | 27/12/2019 | A Study of JR-171 in Patients With Mucopolysaccharidosis I | Phase I/II Study of JR-171 ? Patients With Mucopolysaccharidosis Type I | Mucopolysaccharidosis I | Drug: JR-171 (lepunafusp alfa) | JCR Pharmaceuticals Co., Ltd. | NULL | Completed | 0 Years | N/A | All | 19 | Phase 1/Phase 2 | United States;Brazil;Japan |
| 104 | NCT04143958 (ClinicalTrials.gov) | September 2020 | 28/10/2019 | To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease | A Randomized, Open-label, Active Comparator, 2-arm, Prospective Study to Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease | Fabry's Disease | Drug: agalsidase beta (GZ419828);Drug: agalsidase alfa | Sanofi | NULL | Withdrawn | 16 Years | 45 Years | Male | 0 | Phase 4 | Czechia |
| 105 | EUCTR2019-000222-21-GB (EUCTR) | 25/08/2020 | 12/06/2020 | Migalastat Pediatric Long Term Extension Study | A LONG-TERM, OPEN-LABEL STUDY TO EVALUATE THE SAFETY, PHARMACODYNAMICS, AND EFFICACY OF MIGALASTAT IN SUBJECTS > 12 YEARS OF AGE WITH FABRY DISEASE AND AMENABLE GLA VARIANTS | Fabry disease and with amenable GLA variants MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Migalastat Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE | Amicus Therapeutics, UK Limited | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 3 | United States;United Kingdom | ||
| 106 | EUCTR2017-003369-85-NO (EUCTR) | 24/08/2020 | 26/06/2020 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Not Recruiting | Female: yes Male: yes | 99 | Phase 3 | United States;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Norway;Germany;Netherlands | ||
| 107 | NCT04476862 (ClinicalTrials.gov) | August 19, 2020 | 15/7/2020 | Cerliponase Alfa Observational Study in the US | Cerliponase Alfa Observational Study | Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 | Drug: Cerliponase Alfa;Device: Administration Kit | BioMarin Pharmaceutical | NULL | Recruiting | N/A | N/A | All | 35 | United States | |
| 108 | NCT04552691 (ClinicalTrials.gov) | August 7, 2020 | 11/9/2020 | Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients | Expanded Access Treatment With Open-Label Pegunigalsidase Alfa for Fabry Patients | Fabry Disease | Drug: Pegunigalsidase Alfa | Protalix | Chiesi USA, Inc. | Available | 18 Years | N/A | All | United States | ||
| 109 | NCT04246060 (ClinicalTrials.gov) | July 31, 2020 | 27/1/2020 | Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients | Multicentre, Ambispective, Observational, Real Life Study to Assess the Quality of Life Effectiveness of Extended Release (ER) Oral Cysteamine Therapy (Procysbi) in Belgian Patients Suffering From Nephropathic Cystinosis | Nephropathic Cystinosis | Drug: Cysteamine Bitartrate | Chiesi SA/NV | NULL | Enrolling by invitation | N/A | N/A | All | 31 | Belgium | |
| 110 | EUCTR2019-002375-34-DE (EUCTR) | 23/07/2020 | 25/11/2019 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850 MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 104 | Phase 3 | United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 111 | EUCTR2019-004909-27-GB (EUCTR) | 22/07/2020 | 01/05/2020 | STUDY TO EVALUATE THE SAFETY AND ESTABLISH A SAFE DOSE OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME | A PHASE 1/2, MULTICENTER, OPEN-LABEL STUDY TO DETERMINE THE SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF DNL310 IN PEDIATRIC SUBJECTS WITH HUNTER SYNDROME | Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II]) MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: DNL310 Product Code: DNL310 Drug Substance INN or Proposed INN: Not applicable Other descriptive name: IDURONATE-2-SULFATASE FUSED TO A FC POLYPEPTIDE THAT BINDS TO THE HUMAN TRANSFERRIN RECEPTOR | Denali Therapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 16 | Phase 1;Phase 2 | United States;Netherlands;Germany;Italy;United Kingdom | ||
| 112 | EUCTR2017-003369-85-IT (EUCTR) | 16/07/2020 | 07/10/2020 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease - MODIFY | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: [ACT-434964] INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | IDORSIA PHARMACEUTICALS LTD | NULL | Not Recruiting | Female: yes Male: yes | 108 | Phase 3 | United States;Finland;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 113 | NCT04251026 (ClinicalTrials.gov) | July 16, 2020 | 28/1/2020 | A Study of DNL310 in Pediatric Participants With Hunter Syndrome | A Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants With Hunter Syndrome | Mucopolysaccharidosis II | Drug: DNL310 | Denali Therapeutics Inc. | NULL | Recruiting | N/A | 18 Years | Male | 45 | Phase 1/Phase 2 | United States;Netherlands |
| 114 | EUCTR2018-002984-24-DE (EUCTR) | 30/06/2020 | 10/01/2020 | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old | Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) | Nephropatic Cystinosis patients with corneal cystine crystal deposits MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Trade Name: Cystadrops Product Name: Cystadrops INN or Proposed INN: Cysteamine hydrochloride Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride | Recordati Rare Diseases | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 5 | Phase 3 | France;Germany;United Kingdom | ||
| 115 | NCT04221451 (ClinicalTrials.gov) | June 29, 2020 | 6/1/2020 | A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2 | A Multicenter, Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, Safety, and Tolerability of Venglustat in Late-onset GM2 Gangliosidosis (Tay-Sachs Disease and Sandhoff Disease) Together With a Separate Basket for Juvenile/Adolescent Late-onset GM2 Gangliosidosis and Ultra-rare Diseases Within the Same and Similar Glucosylceramide-based Sphingolipid Pathway | Tay-Sachs Disease Sandhoff Disease | Drug: venglustat GZ402671;Drug: placebo | Genzyme, a Sanofi Company | NULL | Active, not recruiting | 2 Years | N/A | All | 74 | Phase 3 | United States;Argentina;Austria;Brazil;Czechia;France;Germany;Italy;Japan;Portugal;Russian Federation;Spain;Turkey;United Kingdom |
| 116 | EUCTR2018-002984-24-IT (EUCTR) | 24/06/2020 | 21/10/2020 | Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old - SCOB2 (Study Cystadrops® Ophthalmic for Patients Below 2 years) | Nephropatic Cystinosis patients with corneal cystine crystal deposits MedDRA version: 20.0;Level: LLT;Classification code 10071112;Term: Nephropathic cystinosis;System Organ Class: 100000004850;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Trade Name: Cystadrops Product Name: Cystadrops Product Code: [045251016] INN or Proposed INN: Mercaptamina Other descriptive name: ß-mercaptoethylamine Hydrochloride & 2-aminoethanethiol Hydrochloride | Recordati Rare Diseases | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 5 | Phase 3 | France;Belgium;Germany;United Kingdom;Italy | ||
| 117 | EUCTR2019-002375-34-CZ (EUCTR) | 26/05/2020 | 26/05/2020 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850 MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 83 | Phase 3 | United States;Portugal;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 118 | EUCTR2019-002375-34-PT (EUCTR) | 25/05/2020 | 03/12/2019 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850 MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 104 | Phase 3 | Portugal;United States;Czechia;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 119 | EUCTR2019-002979-34-ES (EUCTR) | 18/05/2020 | 25/05/2020 | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) | MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: scAAV9.U1A.hSGSH Product Code: ABO-102 INN or Proposed INN: Rebisufligene etisparvovec | Abeona Therapeutics Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 34 | Phase 1;Phase 2 | Germany;United States;France;Spain;Australia | ||
| 120 | EUCTR2017-003369-85-ES (EUCTR) | 18/05/2020 | 25/05/2020 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Russian Federation;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 121 | EUCTR2017-003369-85-IE (EUCTR) | 18/05/2020 | 01/07/2019 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Not Recruiting | Female: yes Male: yes | 99 | Phase 3 | United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 122 | NCT03687476 (ClinicalTrials.gov) | May 2020 | 6/8/2018 | Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease | An Open-label, Multicenter Safety and Tolerability Study of VTS-270 (2-hydroxypropyl-ß-cyclodextrin) in Pediatric Subjects Aged < 4 Years With Neurologic Manifestations of Niemann-Pick Type C (NPC) Disease | Niemann-Pick Disease, Type C | Drug: VTS-270 | Vtesse, Inc., a Mallinckrodt Pharmaceuticals Company | NULL | Withdrawn | N/A | 4 Years | All | 0 | Phase 2 | NULL |
| 123 | JPRN-jRCT2021220001 | 20/04/2020 | 13/04/2022 | A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female adult participants with Fabry disease | A randomized, double-blind, placebo-controlled, 12-month Phase 3 study to evaluate the effect of venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months | Fabry Disease | Drug: Venglustat (GZ402671) Pharmaceutical form: Tablet, Route of administration: Oral Drug: Placebo Pharmaceutical form: Tablet, Route of administration: Oral | Tanaka Tomoyuki | NULL | Recruiting | >= 18age old | Not applicable | Both | 114 | Phase 3 | United States;Japan |
| 124 | NCT03910621 (ClinicalTrials.gov) | April 2, 2020 | 8/3/2019 | Safety and Efficacy of Miglustat in Chinese NPC Patients | A Single Arm Uncontrolled 12 Months Clinical Study to Evaluate the Safety and Efficacy of Miglustat (Zavesca) for the Treatment of Niemann Pick Type C Disease (NPC) in Chinese Subjects | Niemann-Pick Disease, Type C | Drug: Miglustat | Actelion | NULL | Completed | 4 Years | N/A | All | 17 | Phase 4 | China |
| 125 | EUCTR2019-004645-32-GB (EUCTR) | 24/03/2020 | 31/12/2019 | A Long-term Follow-up Study of Fabry Disease Subjects Treated with FLT190 (MARVEL 2) | A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects with Fabry Disease - Marvel 2 | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: FLT190 INN or Proposed INN: NA Other descriptive name: FLT190 | Freeline Therapeutics Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 15 | Phase 2 | United States;France;Denmark;Norway;Germany;Italy;United Kingdom | ||
| 126 | EUCTR2019-002375-34-GB (EUCTR) | 23/03/2020 | 27/11/2019 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety of venglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 100000004850 MedDRA version: 23.0;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: GZ402671 INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 83 | Phase 3 | United States;Portugal;Spain;Turkey;Austria;Russian Federation;United Kingdom;Italy;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 127 | EUCTR2018-002210-12-BE (EUCTR) | 20/03/2020 | 27/03/2020 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 128 | JPRN-jRCT2031220250 | 11/03/2020 | 07/08/2022 | Lon-term study of idursulfase beta in patients with mucopolysaccharidosis type II | Lon-term study of idursulfase beta in patients with mucopolysaccharidosis type II - CKK001 | Mucopolysaccharidosis type II;D016532 | [Investigative drug, dose, and administration method] - Investigative drug: Vial formulation filled with idursulfase beta for intracerebroventricular administration (Concentration 15 +/- 1.5 mg/mL, liquid volume 1.25 mL) - Dose and administration method: An implantable cerebrospinal fluid reservoir is attached to the subject's head, and idursulfase beta 30 mg is administered to the ventricles once every 4 weeks. | Yanagi Komei | NULL | Complete | >= 6month old | < 15age old | Male | 6 | Phase 3 | Japan |
| 129 | EUCTR2019-002375-34-IT (EUCTR) | 04/03/2020 | 17/06/2021 | A multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, and safety ofvenglustat in late-onset GM2 | A multicenter, multinational, randomized, double-blind, placebo-controlled study to assess the efficacy, pharmacodynamics, pharmacokinetics, safety, and tolerability of venglustat in late-onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) together with a separate basket for juvenile/adolescent late-onset GM2 gangliosidosis and ultra-rare diseases within the same and similar glucosylceramide-based sphingolipid pathway - AMETHIST | Tay-Sachs diseaseSandhoff disease MedDRA version: 23.0;Level: LLT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Venglustat Product Code: [GZ402671] INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: [GZ402671] INN or Proposed INN: venglustat Other descriptive name: Genz-682452-AU Product Name: Venglustat Product Code: [GZ402671] INN or Proposed INN: Venglustat Other descriptive name: Genz-682452-AU | GENZYME CORPORATION | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 83 | Phase 3 | United States;Portugal;Czechia;Spain;Turkey;Austria;Russian Federation;Italy;United Kingdom;France;Czech Republic;Argentina;Brazil;Germany;Japan | ||
| 130 | NCT04281537 (ClinicalTrials.gov) | March 1, 2020 | 7/2/2020 | A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy. | A Multi-country Time and Motion Study to Describe the Experience of Clinicians, Patients and Their Caregivers During the Treatment of Fabry Disease With Enzyme Replacement Therapy With Agalsidase Alfa and Agalsidase Beta | Fabry Disease | Drug: Agalsidase Beta;Drug: Agalsidase Alpha | Amicus Therapeutics | NULL | Completed | 18 Years | N/A | All | 76 | United States;Brazil;Japan;Taiwan;Turkey | |
| 131 | NCT04539340 (ClinicalTrials.gov) | February 28, 2020 | 28/8/2020 | A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers | An Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous Administration | Mucopolysaccharidosis Type II;Metabolic Diseases | Biological: GNR-055 | AO GENERIUM | NULL | Completed | 18 Years | 50 Years | Male | 20 | Phase 1 | Russian Federation |
| 132 | EUCTR2018-002097-51-DE (EUCTR) | 12/02/2020 | 28/02/2019 | A Fabry Disease Gene Therapy Study | A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: FLT190 INN or Proposed INN: NA Other descriptive name: FLT190 | Freeline Therapeutics Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 12 | Phase 1;Phase 2 | Austria;Norway;United States;Denmark;Italy;United Kingdom;France;Germany;Spain | ||
| 133 | EUCTR2017-000146-21-IT (EUCTR) | 30/01/2020 | 23/10/2020 | AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS | AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS - ASPIRE | Fabry disease and with amenable GLA variants MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Galafold Product Name: Migalastat Product Code: [AT1001] INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE | Amicus Therapeutics UK, Ltd | NULL | NA | Female: yes Male: yes | 20 | Phase 3 | United States;Spain;Australia;Germany;United Kingdom;Italy | ||
| 134 | NCT04787887 (ClinicalTrials.gov) | January 29, 2020 | 4/3/2021 | A Phase I Study to Compare Abcertin and EU-sourced Cerezyme® in Healthy Volunteers | A Randomized, Double-blind, 2-treatment, 2-period, Crossover Phase I Study to Compare the PK, Safety and Tolerability of 60 IU/kg of Abcertin, and EU-sourced Cerezyme® in Healthy Volunteers Following a Single Intravenous Administration | Gaucher Disease | Drug: Abcertin;Drug: EU-sourced Cerezyme | ISU Abxis Co., Ltd. | NULL | Completed | 18 Years | 45 Years | All | 42 | Phase 1 | Australia |
| 135 | EUCTR2018-001148-67-SI (EUCTR) | 09/01/2020 | 03/04/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands | ||
| 136 | EUCTR2018-003291-12-DE (EUCTR) | 08/01/2020 | 06/06/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom | ||
| 137 | NCT04201405 (ClinicalTrials.gov) | January 7, 2020 | 5/12/2019 | Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type IIIA | A Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A) | Mucopolysaccharidosis Type IIIA | Drug: Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene | University of Manchester | Orchard Therapeutics;CTI Clinical Trial and Consulting Services;University College, London;Great Ormond Street Hospital for Children NHS Foundation Trust;Manchester University NHS Foundation Trust | Active, not recruiting | 3 Months | 24 Months | All | 5 | Phase 1/Phase 2 | United Kingdom |
| 138 | JPRN-jRCT2051190085 | 06/01/2020 | 19/12/2019 | A long-term study of beta-glucuronidase enzyme replacement therapy for Sly disease | A long-term, open label, extension study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease | Mucopolysaccharidosis type VII Mucopolysaccharidosis VII, Sly syndrome, beta-glucuronidase, vestronidase alfa;D016538 | Investigational drug: Vestronidase alfa [Recombinant human beta-glucuronidase (rhGUS)], 4 mg/kg, IV, QOW | Hamazaki Takashi | NULL | Recruiting | Not applicable | Not applicable | Both | 4 | Phase 3 | Japan |
| 139 | EUCTR2015-003904-21-FR (EUCTR) | 23/12/2019 | 11/09/2019 | Gene transfer clinical trial for Mucopolysaccharidosis IIIA | Phase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA | MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: scAAV9.U1A.hSGSH Product Code: ABO-102 INN or Proposed INN: rebisufligene etisparvovec Other descriptive name: scAAV9.U1A.hSGSH | Abeona Therapeutics Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 22 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;France;Brazil;Spain;Australia;Germany;United Kingdom | ||
| 140 | EUCTR2019-000064-21-GB (EUCTR) | 20/12/2019 | 11/02/2020 | To assess the glycosphingolipid clearance and clinical benefits of agalsidase beta in male patients with classic Fabry disease switching from agalsidase alfa | A randomized, open-label, active comparator, 2-arm, prospective study to assess the glycosphingolipid clearance and clinical effects of switching to agalsidase beta (Fabrazyme®) versus continuing on agalsidase alfa (Replagal) in male patients with classic Fabry disease. - Fabry study with Fabrazyme and Replagal | Fabry's disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Trade Name: Replagal Product Name: Replagal INN or Proposed INN: AGALSIDASE ALFA | Sanofi Aventis Groupe (SAG) | NULL | Not Recruiting | Female: no Male: yes | 35 | Phase 4 | France;Czech Republic;Canada;Spain;Turkey;Denmark;Austria;Norway;Germany;Italy;United Kingdom | ||
| 141 | EUCTR2018-000195-15-DE (EUCTR) | 16/12/2019 | 22/10/2018 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2;Phase 3 | France;United States;Netherlands;Germany;United Kingdom | ||
| 142 | EUCTR2019-002636-82-IT (EUCTR) | 02/12/2019 | 30/07/2019 | A clinical trial to evaluate the effect of OTL-200, a gene therapy treatment in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD) | An open label, non-randomised trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD) | Metachromatic Leukodystrophy MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: OTL-200 INN or Proposed INN: Not Applicable Other descriptive name: OTL-200 Dispersion for Infusion | Orchard Therapeutics (Europe) Limited | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 6 | Phase 3 | Italy | ||
| 143 | EUCTR2017-002806-10-NL (EUCTR) | 29/11/2019 | 08/11/2018 | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | An open, non-controlled, parallel, ascending multiple-dose, multicenter study to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of SOBI003 in pediatric MPS IIIA patients | Mucopolysaccharidosis Type IIIA or Sanfilippo Syndrome MedDRA version: 20.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Chemically modified recombinant human sulfamidase Product Code: SOBI003 INN or Proposed INN: not applicable Other descriptive name: CHEMICALLY MODIFIED RECOMBINANT HUMAN SULFAMIDASE | Swedish Orphan Biovitrum AB (publ) | NULL | Not Recruiting | Female: yes Male: yes | 9 | Phase 1 | United States;Turkey;Germany;Netherlands | ||
| 144 | JPRN-jRCTs061190017 | 21/11/2019 | 26/09/2019 | Japan-Ambroxol Chaperone Study | 2 cohort, Non-randomized, Multi-site Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride in Patients with Neuronopathic Gaucher disease - J-ACT | Neuronopathic Gaucher disease | Ambroxol will be given. | Narita Aya | NULL | Recruiting | Not applicable | Not applicable | Both | 25 | Phase 3 | Japan |
| 145 | EUCTR2019-000667-24-GB (EUCTR) | 12/11/2019 | 19/03/2019 | A Phase I/II Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fabry Disease | A Phase I/II, Multicenter, Open-Label, SingleDose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects with Fabry Disease | Fabry Disease (X-linked lysosomal storage disease) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant Adeno-associated virus 2/6 vector encoding the cDNA for human alpha galactosidase A Product Code: ST-920 INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding human alpha-galactosidase A cDNA | Sangamo Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 30 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;United Kingdom | ||
| 146 | EUCTR2018-003291-12-GB (EUCTR) | 12/11/2019 | 18/06/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Phase 2 | France;United States;Mexico;Canada;Brazil;Belgium;Spain;Israel;Netherlands;Germany;Japan;United Kingdom | ||
| 147 | EUCTR2018-001148-67-HU (EUCTR) | 07/11/2019 | 08/11/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands | ||
| 148 | EUCTR2018-001947-30-IT (EUCTR) | 31/10/2019 | 01/09/2021 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease - PB-102-F51 | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: [PRX-102] INN or Proposed INN: PEGUNIGALSIDASE ALFA | PROTALIX LTD | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 40 | Phase 3 | United States;Czechia;Taiwan;Finland;Spain;Turkey;United Kingdom;Italy;France;Canada;Belgium;Australia;Denmark;Netherlands;Norway;Sweden | ||
| 149 | EUCTR2018-002984-24-GB (EUCTR) | 25/10/2019 | 15/07/2019 | Open-label, Single-arm, Multicenter Study to Assess the Safety of, Cystadrops® in Pediatric Cystinosis Patients,from 6 Months to Less Than 2 Years Old [SCOB2 Study] | Open-label, Single-arm, Multicenter Study to Assess the Safety of Cystadrops® in Pediatric Cystinosis Patients from 6 Months to Less Than 2 Years Old [SCOB2 Study] - SCOB2 | Corneal cystine crystal deposits in pediatric patients withnephropathic cystinosis from 6 months to less than 2 years old;Therapeutic area: Diseases [C] - Eye Diseases [C11] | Trade Name: Cystadrops Product Name: Cystadrops INN or Proposed INN: Mercaptamine hydrochloride Other descriptive name: Cysteamine hydrochloride | RECORDATI Rare Diseases SARL | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 5 | Phase 3 | France;United Kingdom | ||
| 150 | EUCTR2019-002051-42-GB (EUCTR) | 25/10/2019 | 09/04/2020 | A study testing a gene therapy to treat mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) | A phase I-II, study of autologous CD34+ haematopoietic stem cells transduced ex vivo with CD11b lentiviral vector encoding for human SGSH in patients with mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo syndrome type A) | MPS IIIA, mucopolysaccharidosis type IIIA MedDRA version: 20.1;Level: PT;Classification code 10028093;Term: Mucopolysaccharidosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: CRYOPRESERVED AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING HUMAN SGSH GENE INN or Proposed INN: no recommended INN Other descriptive name: AUTOLOGOUS CD34+ CELLS TRANSDUCED WITH A LENTIVIRAL VECTOR CONTAINING THE HUMAN SGSH GENE | University of Manchester | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 5 | Phase 1;Phase 2 | United Kingdom | ||
| 151 | EUCTR2018-003291-12-NL (EUCTR) | 24/10/2019 | 10/04/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 INN or Proposed INN: N/A Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Phase 2 | United States;Japan;United Kingdom;Spain;Greece;Canada;Netherlands;Belgium;Brazil;Denmark;Mexico;Italy;Israel;France;Germany | ||
| 152 | EUCTR2018-001947-30-DK (EUCTR) | 22/10/2019 | 13/06/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 40 | Phase 3 | United States;Czechia;Belgium;Denmark;Norway;United Kingdom;Italy | ||
| 153 | JPRN-JapicCTI-194975 | 01/10/2019 | 27/09/2019 | An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients | An multicenter open-label long-term continuous administration study to investigate the safety and tolerability of lucerastat in Japanese Fabry disease patients | Fabry disease | Intervention name : Lucerastat INN of the intervention : lucerastat Dosage And administration of the intervention : 1000 mg twice daily Control intervention name : - INN of the control intervention : - Dosage And administration of the control intervention : - | Idorsia Pharmaceuticals Japan Ltd | NULL | other | 16 | BOTH | 20 | Phase 3 | Japan | |
| 154 | NCT03228940 (ClinicalTrials.gov) | September 30, 2019 | 18/7/2017 | Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease | An Open-Label Study to Assess the Safety and Effect on Key Biomarkers of Oral RVX000222 in Subjects With Fabry Disease | Fabry Disease | Drug: RVX000222 | Resverlogix Corp | NULL | Not yet recruiting | 18 Years | 75 Years | All | 16 | Phase 1/Phase 2 | Canada |
| 155 | NCT04088734 (ClinicalTrials.gov) | September 18, 2019 | 11/9/2019 | Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease | A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease | MPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis III | Drug: ABO-102 | Ultragenyx Pharmaceutical Inc | Abeona Therapeutics, Inc | Terminated | 2 Years | 18 Years | All | 5 | Phase 1/Phase 2 | United States;Australia;Spain |
| 156 | NCT03759639 (ClinicalTrials.gov) | September 4, 2019 | 27/11/2018 | N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC) | Effects of N-Acetyl-L-Leucine on Niemann Pick Type C Disease: A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study. | Niemann-Pick Disease, Type C | Drug: IB1001 | IntraBio Inc | NULL | Active, not recruiting | 6 Years | N/A | All | 34 | Phase 2 | United States;Germany;Slovakia;Spain;United Kingdom |
| 157 | NCT04348136 (ClinicalTrials.gov) | September 1, 2019 | 18/12/2019 | An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II | An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Active, not recruiting | N/A | N/A | Male | 27 | Phase 2/Phase 3 | Japan |
| 158 | EUCTR2017-000146-21-GB (EUCTR) | 29/08/2019 | 22/03/2019 | ASPIRE Paediatric Fabry Study | AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS | Fabry disease and with amenable GLA variants MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Galafold Product Name: Migalastat Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE | Amicus Therapeutics, UK Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 3 | United States;Spain;Australia;Germany;Italy;United Kingdom | ||
| 159 | NCT03952637 (ClinicalTrials.gov) | August 19, 2019 | 15/5/2019 | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | Lysosomal Diseases;Gangliosidosis;GM1 | Biological: AAV9-GLB1;Procedure: Abdominal ultrasound;Drug: Rituximab;Drug: Sirolimus;Drug: Methylprednisolone;Drug: Prednisone;Diagnostic Test: Audiology assessment with ABR;Diagnostic Test: Bone density scan (DEXA);Diagnostic Test: Electrocardiogram (EKG);Diagnostic Test: Echocardiogram;Other: Electroencephalogram (EEG) awake and extended overnight;Diagnostic Test: Laboratory tests;Procedure: Lumbar puncture;Procedure: Brain MRI/MRS/fMRI;Behavioral: Neurocognitive testing;Other: Neurology exam;Behavioral: PICC or other Central line placement;Procedure: Skeletal survey;Procedure: Skin biopsy;Procedure: Speech and modified barium swallow study;Procedure: Ophthalmology exam | National Human Genome Research Institute (NHGRI) | Sio Gene Therapies | Active, not recruiting | 6 Months | 12 Years | All | 16 | Phase 1/Phase 2 | United States |
| 160 | NCT04069260 (ClinicalTrials.gov) | August 2, 2019 | 16/8/2019 | A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis | A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations | Genetic Disease;Nonsense Mutation;Cystinosis | Drug: ELX-02 | Eloxx Pharmaceuticals, Inc. | NULL | Terminated | 12 Years | N/A | All | 3 | Phase 2 | Canada |
| 161 | NCT03021941 (ClinicalTrials.gov) | July 31, 2019 | 23/9/2016 | Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease | A MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASE | Type 1 Gaucher Disease | Drug: Elelyso 60 units/kg | Pfizer | NULL | Withdrawn | N/A | 12 Years | All | 0 | Phase 4 | United States |
| 162 | NCT04046224 (ClinicalTrials.gov) | July 23, 2019 | 1/8/2019 | Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease | A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects With Fabry Disease | Fabry Disease | Biological: ST-920 | Sangamo Therapeutics | NULL | Recruiting | 18 Years | N/A | All | 48 | Phase 1/Phase 2 | United States;Australia;Canada;Germany;Italy;Taiwan;United Kingdom |
| 163 | NCT03897361 (ClinicalTrials.gov) | July 8, 2019 | 6/2/2019 | Stem Cell Gene Therapy for Cystinosis | A Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector | Lysosomal Storage Diseases;Cystinosis | Genetic: CTNS-RD-04 or CTNS-RD-04-LB (where the suffix -LB stands for LentiBOOST) | University of California, San Diego | California Institute for Regenerative Medicine (CIRM);Cystinosis Research Foundation | Recruiting | 18 Years | N/A | All | 6 | Phase 1/Phase 2 | United States |
| 164 | NCT04040049 (ClinicalTrials.gov) | July 8, 2019 | 26/7/2019 | A Fabry Disease Gene Therapy Study | A Phase 1/2, Baseline-controlled, Non-randomized, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease | Fabry Disease;Lysosomal Storage Diseases | Genetic: FLT190 | Freeline Therapeutics | NULL | Recruiting | 18 Years | N/A | Male | 15 | Phase 1/Phase 2 | United States;Austria;Canada;Germany;Italy;Norway;United Kingdom |
| 165 | EUCTR2018-002097-51-IT (EUCTR) | 26/06/2019 | 19/01/2021 | A Fabry Disease Gene Therapy Study (MARVEL 1) | A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Singleascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry disease - MARVEL1 | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: FLT190 Product Code: [FLT190] Other descriptive name: FLT190 | Freeline Therapeutics Limited | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 12 | Phase 1;Phase 2 | France;United States;Denmark;Norway;Germany;United Kingdom;Italy | ||
| 166 | EUCTR2014-001411-39-DE (EUCTR) | 24/06/2019 | 29/10/2018 | Gene transfer clinical trial for Mucopolysaccharidosis IIIB | Phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: rAAV9.CMV.hNAGLU | Abeona Therapeutics Europe SL. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 1;Phase 2 | United States;France;Spain;Germany;United Kingdom | ||
| 167 | EUCTR2018-001148-67-NL (EUCTR) | 21/06/2019 | 24/07/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Slovenia;Finland;Spain;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway | ||
| 168 | EUCTR2018-004331-71-GB (EUCTR) | 20/06/2019 | 14/01/2019 | To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with Niemann-Pick Type C disease (NPC). | Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational,multicenter, open-label, rater-blinded Phase II study. - IB1001-201Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease | To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients withNiemann-Pick Type C disease (NPC). MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: SUB195712 Other descriptive name: N-Acetyl-L-Leucine Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-leucine Other descriptive name: N-Acetyl-L-Leucine | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Phase 2 | United States;United Kingdom;Slovakia;Germany;Spain | ||
| 169 | EUCTR2018-004406-25-GB (EUCTR) | 20/06/2019 | 06/02/2020 | To demonstrate that N-Acetyl-L-Leucine is effective in improving symptoms, functioning and quality of life in patients with GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). | Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and SandhoffDisease): A multinational, multicenter, open-label, rater-blinded Phase II study - IB1001-202 | To demonstrate that N-Acetyl-L-Leucine is effective in improvingsymptoms, functioning, and quality of life in patients GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). MedDRA version: 20.0;Level: PT;Classification code 10043147;Term: Tay-Sachs disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 21.1;Classification code 10081314;Term: Sandhoff disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: SUB195712 Other descriptive name: N-Acetyl-L-Leucine Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-leucine Other descriptive name: N-Acetyl-L-Leucine | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Phase 2 | United States;Spain;Germany;United Kingdom | ||
| 170 | EUCTR2018-004331-71-ES (EUCTR) | 10/06/2019 | 22/01/2019 | A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease. | Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study | Niemann-Pick Disease type C (NPC) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N Acetyl L Leucine Product Code: IB1001 INN or Proposed INN: N Acetyl L leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Slovakia;Spain;Germany;United Kingdom | ||
| 171 | EUCTR2018-004406-25-ES (EUCTR) | 10/06/2019 | 12/04/2019 | A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). | Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. | GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N Acetyl L leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Spain;Germany;United Kingdom | ||
| 172 | NCT03759665 (ClinicalTrials.gov) | June 7, 2019 | 27/11/2018 | N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) | Effects of N-Acetyl-L-Leucine on GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study | GM2 Gangliosidosis;Tay-Sachs Disease;Sandhoff Disease | Drug: IB1001 | IntraBio Inc | NULL | Completed | 6 Years | N/A | All | 30 | Phase 2 | United States;Germany;Spain;United Kingdom |
| 173 | EUCTR2018-004331-71-SK (EUCTR) | 04/06/2019 | 30/01/2019 | A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease. | Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C: A multinational,multicenter, open-label, rater-blinded Phase II study. | Niemann-Pick Disease type C (NPC) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Phase 2 | United States;Slovakia;Spain;Germany;United Kingdom | ||
| 174 | NCT04145037 (ClinicalTrials.gov) | May 30, 2019 | 27/8/2019 | Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease | The Guard1 Trial, an Open-Label, Multinational Phase 1/2 Study of the Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher Disease | Gaucher Disease | Drug: AVR-RD-02 | AVROBIO | NULL | Recruiting | 18 Years | 50 Years | All | 16 | Phase 1/Phase 2 | United States;Australia;Canada |
| 175 | EUCTR2018-000195-15-GB (EUCTR) | 28/05/2019 | 19/09/2018 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 INN or Proposed INN: OLENASUFLIGENE RELDUPARVOVEC Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Phase 2;Phase 3 | Germany;United Kingdom;United States;France;Netherlands | ||
| 176 | EUCTR2018-001947-30-GB (EUCTR) | 27/05/2019 | 24/10/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease - PB-102-F51 | MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 40 | Phase 3 | United States;Taiwan;Spain;Turkey;United Kingdom;Italy;Czech Republic;Canada;Belgium;Australia;Denmark;Netherlands;Norway | ||
| 177 | NCT03893071 (ClinicalTrials.gov) | May 23, 2019 | 20/2/2019 | Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPßCD) in Niemann-Pick Disease Type C | An Open-Label Extension Study of the Long-Term Safety and Efficacy of Intravenous Trappsol® Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-ß-cyclodextrin | Cyclo Therapeutics, Inc. | NULL | Active, not recruiting | 18 Years | N/A | All | 12 | Phase 1 | United States |
| 178 | EUCTR2018-000504-42-ES (EUCTR) | 21/05/2019 | 09/04/2018 | Gene Therapy Clinical Trial for Mucopolysaccharidosis IIIA in patient with middle and advanced phases of the disease | A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients with Middle and Advanced Phases of MPS IIIA Disease - ABO-102 for Treatment of Middle and Advanced Phases of MPS IIIA | MPS IIIA is a devastating lysosomal storage disease, caused by a Nsulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, withdeterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatmentcurrently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: scAAV9.U1A.SGSH Product Code: ABO-102 INN or Proposed INN: scAAV9.U1A.SGSH Other descriptive name: scAAV9.U1A.SGSH | Abeona Therapeutics Inc | NULL | Not Recruiting | Female: yes Male: yes | 12 | Phase 1;Phase 2 | United States;Spain;Australia | ||
| 179 | EUCTR2018-003291-12-BE (EUCTR) | 20/05/2019 | 18/04/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 42 | Phase 2 | United States;France;Mexico;Canada;Spain;Brazil;Belgium;Israel;Netherlands;Germany;United Kingdom;Japan | ||
| 180 | NCT03949920 (ClinicalTrials.gov) | May 16, 2019 | 18/4/2019 | A Study of Migalastat in Fabry Disease | A Prospective Observational Study Investigating the Impact of Migalastat on Cardiovascular Structure and Function in Fabry Disease | Fabry Disease | Drug: Migalastat | Manchester University NHS Foundation Trust | Northern Care Alliance NHS Foundation Trust | Active, not recruiting | 16 Years | N/A | All | 21 | United Kingdom | |
| 181 | EUCTR2018-003291-12-ES (EUCTR) | 16/05/2019 | 12/04/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy - NA | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 INN or Proposed INN: Not Available Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 35 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan | ||
| 182 | EUCTR2016-000378-38-FR (EUCTR) | 13/05/2019 | 15/05/2019 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Norway;Netherlands;Germany | ||
| 183 | EUCTR2018-004406-25-DE (EUCTR) | 09/05/2019 | 23/01/2019 | A safety and efficacy study of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). | Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multicenter, open-label, rater-blinded Phase II study. | GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-Leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Phase 2 | United States;Spain;Germany;United Kingdom | ||
| 184 | EUCTR2017-000146-21-ES (EUCTR) | 09/05/2019 | 11/04/2019 | ASPIRE Pediatric Fabry Study | AN OPEN-LABEL STUDY OF THE SAFETY, PHARMACOKINETICS, PHARMACODYNAMICS, AND EFFICACY OF 12-MONTH TREATMENT WITH MIGALASTAT IN PEDIATRIC SUBJECTS (AGED 12 TO <18 YEARS) WITH FABRY DISEASE AND AMENABLE GLA VARIANTS | Fabry disease and with amenable GLA variants MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Galafold Product Name: Migalastat Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE | Amicus Therapeutics, UK Ltd | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 3 | United States;Spain;Australia;Germany;United Kingdom;Italy | ||
| 185 | EUCTR2018-004331-71-DE (EUCTR) | 08/05/2019 | 02/01/2019 | A safety and efficacy study of N-Acetyl-L-Leucine on Niemann-Pick type C Disease. | Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study | Niemann-Pick Disease type C (NPC) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID Product Name: N-Acetyl-L-Leucine Product Code: IB1001 INN or Proposed INN: N-Acetyl-L-leucine Other descriptive name: 2(S)-(ACETYLAMINO)-4-METHYLPENTANOIC ACID | IntraBio Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 39 | Phase 2 | United States;Slovakia;Spain;Germany;United Kingdom | ||
| 186 | JPRN-JMA-IIA00421 | 07/05/2019 | 26/04/2019 | Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) | Phase II/III Study to Evaluate the Efficacy and Safety of Chaperone Therapy with Ambroxol Hydrochloride (JT408T) in Patients with Neuronopathic Gaucher disease (Japan- Lysosomal Optimization Study: J-LO study) | Neuronopathic Gaucher disease | Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL. | Tottori University Hospital, Departrment of Child Neurology | NULL | Completed | No Limit | No Limit | BOTH | 3 | Phase 2-3 | Japan |
| 187 | NCT03771898 (ClinicalTrials.gov) | April 30, 2019 | 10/12/2018 | A Study of Intrathecal SHP611 in Children With Metachromatic Leukodystrophy | A Global, Multicenter, Single-arm, Matched External Control Study of Intrathecal SHP611 in Subjects With Late Infantile Metachromatic Leukodystrophy | Metachromatic Leukodystrophy (MLD) | Drug: SHP611 | Shire | Takeda Development Center Americas, Inc. | Active, not recruiting | 6 Months | 72 Months | All | 36 | Phase 2 | United States;Argentina;Belgium;Brazil;Canada;France;Germany;Greece;Israel;Italy;Japan;Netherlands;Spain;United Kingdom;Denmark;Mexico |
| 188 | JPRN-JapicCTI-194731 | 30/4/2019 | 24/04/2019 | An open-label phase 3 study of lucerastat in Japanese subjects with Fabry disease | A multicenter, open-label study to determine the efficacy and safety of lucerastat oral therapy in Japanese subjects with Fabry disease | Fabry disease | Intervention name : ACT-434964 INN of the intervention : Lucerastat Dosage And administration of the intervention : 1000mg twice a day, oral administration Control intervention name : - INN of the control intervention : - Dosage And administration of the control intervention : - | Idorsia Pharmaceuticals Japan Ltd | NULL | complete | 16 | BOTH | 20 | Phase 3 | Japan | |
| 189 | EUCTR2018-001947-30-BE (EUCTR) | 29/04/2019 | 01/04/2019 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks in Patients with Fabry Disease | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 40 | Phase 3 | United States;Czechia;Belgium;Denmark;Norway;United Kingdom;Italy | ||
| 190 | EUCTR2018-002210-12-NL (EUCTR) | 12/04/2019 | 19/11/2018 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway | ||
| 191 | EUCTR2018-003291-12-FR (EUCTR) | 11/04/2019 | 20/02/2019 | Research study to determine the effects of an investigational drug, SHP611 on patients with with Late Infantile Metachromatic Leukodystrophy (MLD) specially the gross motor function, using the Gross Motor Function Classification in Metachromatic Leukodystrophy (GMFC-MLD) compared with matched historical control data in children with MLD. | A Global, Multicenter, Open-label, Matched Historical Control Study of Intrathecal SHP611 in Subjects with Late Infantile Metachromatic Leukodystrophy | Late Metachromatic Leukodystrophy (MLD) MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: SHP611 Other descriptive name: RECOMBINANT HUMAN ARYLSULFATASE A | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 35 | Phase 2 | United States;Spain;Israel;United Kingdom;France;Mexico;Canada;Belgium;Brazil;Denmark;Germany;Netherlands;Japan | ||
| 192 | NCT03775174 (ClinicalTrials.gov) | April 5, 2019 | 11/12/2018 | Expanded Access to Mepsevii | MPS VII;Mucopolysaccharidosis VII;Sly Syndrome | Drug: Mepsevii | Ultragenyx Pharmaceutical Inc | NULL | Available | N/A | N/A | All | NULL | |||
| 193 | NCT03580083 (ClinicalTrials.gov) | April 3, 2019 | 18/6/2018 | RGX-111 Gene Therapy in Patients With MPS I | A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of Intracisternal RGX-111 in Subjects With Mucopolysaccharidosis Type I | Mucopolysaccharidosis Type I (MPS I);Hurler Syndrome;Hurler-Scheie Syndrome | Genetic: RGX-111 | REGENXBIO Inc. | NULL | Active, not recruiting | 4 Months | N/A | All | 8 | Phase 1/Phase 2 | United States;Brazil;Israel |
| 194 | EUCTR2018-000195-15-NL (EUCTR) | 25/03/2019 | 27/09/2018 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 INN or Proposed INN: olenasufligene relduparvovec Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2;Phase 3 | United States;France;Germany;Netherlands;United Kingdom | ||
| 195 | EUCTR2018-002210-12-GB (EUCTR) | 18/03/2019 | 23/10/2018 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Canada;Poland;Belgium;Ireland;Austria;Australia;Netherlands;Germany;United Kingdom | ||
| 196 | EUCTR2016-000378-38-FI (EUCTR) | 12/03/2019 | 06/02/2019 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 78 | Phase 3 | United States;Czechia;Slovenia;Finland;Spain;Turkey;United Kingdom;Switzerland;Italy;France;Hungary;Canada;Argentina;Brazil;Belgium;Australia;Denmark;Norway;Germany;Netherlands;Sweden | ||
| 197 | EUCTR2016-000301-37-NL (EUCTR) | 06/03/2019 | 28/06/2018 | Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3 | Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS | Congenital, hereditary and neonatal diseases MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cerdelga Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Trade Name: Cerezyme Product Name: Imiglucerase INN or Proposed INN: IMIGLUCERASE Other descriptive name: Cerezyme Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 120 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden | ||
| 198 | NCT03950050 (ClinicalTrials.gov) | March 1, 2019 | 6/8/2018 | Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy | Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy | Gaucher Disease, Type 1 | Drug: Ambroxol | Shaare Zedek Medical Center | NULL | Completed | 18 Years | 75 Years | All | 40 | Phase 2 | Israel |
| 199 | EUCTR2018-002210-12-AT (EUCTR) | 19/02/2019 | 05/11/2018 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 200 | EUCTR2018-002210-12-DE (EUCTR) | 13/02/2019 | 26/10/2018 | A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | A multi-center, open-label, uncontrolled, single-arm, extension study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 108 | Phase 3 | United States;Spain;Ireland;Austria;Italy;United Kingdom;France;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 201 | EUCTR2018-001148-67-ES (EUCTR) | 08/02/2019 | 16/11/2018 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Slovenia;Spain;Turkey;Italy;Switzerland;United Kingdom;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany | ||
| 202 | NCT03811028 (ClinicalTrials.gov) | January 19, 2019 | 17/12/2018 | A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients | An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients | Sanfilippo Syndrome Type A (MPS IIIA) | Drug: SOBI003 | Swedish Orphan Biovitrum | NULL | Completed | 18 Months | 78 Months | All | 6 | Phase 1/Phase 2 | United States;Turkey |
| 203 | JPRN-JMA-IIA00416 | 17/01/2019 | 11/03/2019 | A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease | A phase 2 open label study to assess the efficacy and safety of beta-glucuronidase enzyme replacement therapy in Japanese patients with mucopolysaccharidosis type VII, Sly disease | Mucopolysaccharidosis type7 | Intervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:INJECTION, Route of administration:INTRAVENOUS DRIP, intended dose regimen:UX003 will be intravenously administered at dose of 4 mg/kg every other week. UX003 will be sterilely diluted in saline and transferred to infusion bag. Administration of undiluted UX003 is prohibited. The rate of infusion will be determined to administer 2.5% of diluted UX003 for the first one hour and rest of the drug for 3 hours.. Control intervention1:NOT APPLICABLE. | Osaka City University HospitalTakashi Hamazaki | NOT APPLICABLE | Completed | >=4 YEARS | <=40 YEARS | BOTH | 3 | Phase 2 | Japan |
| 204 | NCT03822013 (ClinicalTrials.gov) | January 14, 2019 | 22/1/2019 | Effects of Miglustat Therapy on Infantile Type of Sandhoff and Taysachs Diseases (EMTISTD) | Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases | GM2 Gangliosidosis;Supportive Care | Drug: Miglustat | Tehran University of Medical Sciences | Mashhad University of Medical Sciences;Kashan University of Medical Sciences | Recruiting | 6 Months | 24 Months | All | 30 | Phase 3 | Iran, Islamic Republic of |
| 205 | EUCTR2017-002158-35-PT (EUCTR) | 14/01/2019 | 23/07/2018 | Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VI | A phase IIa study to investigate safety, pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. | Mucopolysaccharidosis (MPS) type VI. MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Odiparcil Product Code: IVA 336 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | France;Portugal;Germany;United Kingdom | ||
| 206 | EUCTR2014-001411-39-GB (EUCTR) | 10/01/2019 | 24/05/2019 | Gene transfer clinical trial for Mucopolysaccharidosis IIIB | Phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease. MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rAAV9.CMV.hNAGLU Product Code: ABO-101 INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: rAAV9.CMV.hNAGLU | Abeona Therapeutics Europe SL. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 9 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 207 | EUCTR2016-000301-37-GB (EUCTR) | 09/01/2019 | 17/06/2019 | Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3 | Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS | Congenital, hereditary and neonatal diseases MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cerdelga Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Trade Name: Cerezyme Product Name: Imiglucerase INN or Proposed INN: IMIGLUCERASE Other descriptive name: Cerezyme Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 120 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden | ||
| 208 | NCT03708965 (ClinicalTrials.gov) | January 1, 2019 | 27/9/2018 | An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II | An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Active, not recruiting | 0 Years | N/A | Male | 19 | Phase 2 | Brazil |
| 209 | EUCTR2018-000195-15-FR (EUCTR) | 27/12/2018 | 04/09/2018 | An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A | An Open-Label, Single-Arm, Multicenter Study of Intracerebral Administration of Adeno-Associated Viral Vectors Serotype rh10 Carrying the Human N-sulfoglucosamine sulfohydrolase (SGSH) cDNA for the Treatment of Mucopolysaccharidosis Type IIIA | Mucopolysaccharidosis Type IIIA MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: LYS-SAF302 Product Code: LYS-SAF302 INN or Proposed INN: olenasufligene relduparvovec Other descriptive name: LYS-SAF302 | Lysogene SA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;France;Netherlands;Germany;United Kingdom | ||
| 210 | NCT03737214 (ClinicalTrials.gov) | December 18, 2018 | 6/11/2018 | A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease | A Multi-center, Open-label, Uncontrolled, Single-arm, Extension Study to Determine the Long-term Safety and Tolerability of Oral Lucerastat in Adult Subjects With Fabry Disease | Fabry Disease | Drug: Lucerastat | Idorsia Pharmaceuticals Ltd. | NULL | Active, not recruiting | 18 Years | N/A | All | 107 | Phase 3 | United States;Australia;Austria;Belgium;Canada;France;Germany;Norway;Poland;Spain;United Kingdom;Czechia;Ireland;Italy;Netherlands;Switzerland |
| 211 | EUCTR2017-002158-35-DE (EUCTR) | 03/12/2018 | 16/08/2017 | Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VI | A phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. | Mucopolysaccharidosis (MPS) type VI. MedDRA version: 20.1;Level: PT;Classification code 10056892;Term: Mucopolysaccharidosis VI;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Odiparcil Product Code: IVA 336 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | Portugal;France;Germany;United Kingdom | ||
| 212 | EUCTR2013-000051-40-DE (EUCTR) | 14/11/2018 | 01/10/2018 | A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa (rhASM) Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 25 | Phase 2 | France;United States;Belgium;Brazil;Germany;United Kingdom;Italy | ||
| 213 | NCT03632213 (ClinicalTrials.gov) | November 7, 2018 | 3/8/2018 | Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI | A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI | Mucopolysaccharidosis IV A;Mucopolysaccharidosis VI;Mucopolysaccharidoses;MPS IV A;MPS VI;MPS - Mucopolysaccharidosis;Morquio A Syndrome;Morquio Syndrome A;Morquio Syndrome | Drug: Losartan;Drug: Placebo | Hospital de Clinicas de Porto Alegre | The Isaac Foundation | Active, not recruiting | 10 Years | 40 Years | All | 10 | Phase 2 | Brazil |
| 214 | NCT03614234 (ClinicalTrials.gov) | November 6, 2018 | 30/7/2018 | Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients | Open Label Extension Study to Evaluate the Long-term Safety and Efficacy of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Administered by Intravenous Infusion Every 4 Weeks in Adult Patients With Fabry Disease | Fabry Disease | Biological: pegunigalsidase alfa | Protalix | NULL | Enrolling by invitation | 18 Years | N/A | All | 40 | Phase 3 | United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom |
| 215 | NCT03725670 (ClinicalTrials.gov) | October 30, 2018 | 25/9/2018 | Lentiviral Gene Therapy for MLD | Gene Therapy for Metachromatic Leukodystrophy (MLD) Using a Self-inactivating Lentiviral Vector (TYF-ARSA) | Metachromatic Leukodystrophy (MLD) | Biological: Lentivirus-mediated delivery of ARSA to the CNS. | Shenzhen Geno-Immune Medical Institute | NULL | Recruiting | 1 Month | N/A | All | 10 | N/A | China |
| 216 | EUCTR2016-002328-10-NL (EUCTR) | 29/10/2018 | 07/11/2018 | Gene Therapy in patients with Mucopolysaccharidosis disease | A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects withMucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated ViralVector 8 to Deliver the human ARSB gene to Liver. | The clinical trial will be conducted on patients withMucopolysaccharidosis Type VI. MPS VI is characterized by growthretardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: AAV2/8.TBG.hARSB Product Code: not applicable INN or Proposed INN: NA Other descriptive name: ADENO-ASSOCIATED VIRAL (AAV) SEROTYPE 8 (AAV2/8) VECTOR WITH LIVER-SPECIFIC THYROXINE-BINDING GLOBULIN (TBG) PROMOTER, DRIVING THE EXPRESSION OF THE HUMAN ARSB GENE | FONDAZIONE TELETHON | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Phase 1 | Turkey;Netherlands;Italy | ||
| 217 | EUCTR2018-000368-27-IT (EUCTR) | 22/10/2018 | 04/11/2020 | ND | ND - ND | Fabry disease MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Digestive System Diseases [C06] | Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO Product Name: fabrazyme Product Code: [A16AB04] INN or Proposed INN: AGALSIDASI BETA | FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS UNIVERSITA' CATTOLICA DEL SACRO CUORE | NULL | Not Recruiting | Female: yes Male: yes | 14 | Phase 4 | Italy | ||
| 218 | NCT03500094 (ClinicalTrials.gov) | October 11, 2018 | 9/4/2018 | Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) | An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA Variants | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | NULL | Completed | 12 Years | 17 Years | All | 22 | Phase 3 | United States;Spain;United Kingdom |
| 219 | EUCTR2016-000301-37-SE (EUCTR) | 09/10/2018 | 05/06/2018 | Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3 | Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS | Congenital, hereditary and neonatal diseases MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cerdelga Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Trade Name: Cerezyme Product Name: Imiglucerase INN or Proposed INN: IMIGLUCERASE Other descriptive name: Cerezyme Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 Other descriptive name: Eliglustat Tartrate – Powder for Oral Suspension | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 120 | Phase 3 | Taiwan;Spain;Turkey;Russian Federation;Italy;United Kingdom;Egypt;France;Canada;Argentina;Netherlands;Japan;Sweden | ||
| 220 | NCT03566043 (ClinicalTrials.gov) | September 27, 2018 | 1/5/2018 | CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome) | A Phase 1/2/3 Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome) | Mucopolysaccharidosis Type II (MPS II) | Genetic: RGX-121 | REGENXBIO Inc. | NULL | Recruiting | 4 Months | 5 Years | Male | 48 | Phase 2/Phase 3 | United States;Brazil |
| 221 | EUCTR2018-001148-67-GB (EUCTR) | 26/09/2018 | 16/05/2018 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102)in Patients With Fabry Disease | MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Slovenia;Spain;Turkey;Italy;United Kingdom;Switzerland;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany | ||
| 222 | NCT03566017 (ClinicalTrials.gov) | September 20, 2018 | 24/5/2018 | Extension Study of 1 mg/kg Pegunigalsidase Alfa in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Fabry Disease | Biological: pegunigalsidase alfa | Protalix | NULL | Enrolling by invitation | 18 Years | 60 Years | All | 110 | Phase 3 | United States;Australia;Canada;Czechia;Finland;France;Hungary;Italy;Netherlands;Norway;Slovenia;Spain;United Kingdom |
| 223 | EUCTR2014-001411-39-ES (EUCTR) | 04/09/2018 | 27/06/2018 | Gene transfer clinical trial for Mucopolysaccharidosis IIIB | Phase I/II gene transfer clinical trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB | MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rAAV9.CMV.hNAGLU Product Code: rAAV9.CMV.hNAGLU INN or Proposed INN: rAAV9.CMV.hNAGLU Other descriptive name: rAAV9.CMV.hNAGLU | Abeona Therapeutics Inc | NULL | Not Recruiting | Female: yes Male: yes | 9 | Phase 1;Phase 2 | United States;France;Spain;Netherlands;Germany;United Kingdom;Italy | ||
| 224 | NCT03702361 (ClinicalTrials.gov) | September 4, 2018 | 6/8/2018 | Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease | Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated Study | Primary Disease | Drug: VPRIV | Shaare Zedek Medical Center | NULL | Completed | 6 Years | 75 Years | All | 15 | Phase 4 | Israel |
| 225 | EUCTR2018-000192-33-GB (EUCTR) | 17/08/2018 | 09/04/2018 | A phase 1/2 study to evaluate the safety and tolerability of SB-913, a rAAV2/6-based gene therapy in patients with Mucopolysaccharidosis II (MPS II) | A Phase 1/2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis II (MPS II) | Mucopolysaccharidosis type II (MPS II) MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: rAAV2/6 Left ZFN Vector Product Code: SB-47171 INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector Product Name: rAAV2/6 Right ZFN Vector Product Code: SB-47898 INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector Product Name: rAAV 2/6 hIDS DONOR Product Code: hIDS DONOR INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding Human Iduronate 2-sulfatase (hIDS) gene donor vector, SB-A6P-HNT Donor Vector | Sangamo Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 32 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;United Kingdom | ||
| 226 | EUCTR2018-000206-28-GB (EUCTR) | 14/08/2018 | 27/03/2018 | A phase 1/2 study to evaluate the safety and tolerability of SB-318, a rAAV2/6-based Gene Therapy, in patients with Mucopolysaccharidosis I (MPS I) | A Phase 1/2, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects with Mucopolysaccharidosis I (MPS I) | Mucopolysaccharidosis type I (MPS I) MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: rAAV2/6 Left ZFN Vector Product Code: SB-47171 INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding Left side-zinc finger nuclease (ZFN1), SB-A6P-ZLEFT Vector Product Name: rAAV2/6 Right ZFN Vector Product Code: SB-47898 INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding Right side-zinc finger nuclease (ZFN2), SB-A6P-ZRIGHT Vector Product Name: SB-A6P-HRL Donor Vector Product Code: SB-IDUA INN or Proposed INN: Not yet assigned Other descriptive name: Adeno-associated virus serotype 2/6 encoding human iduronidase (hIDUA) gene donor vector, SB-A6P-HRL Donor Vector | Sangamo Therapeutics, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 27 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;United Kingdom | ||
| 227 | EUCTR2018-001148-67-CZ (EUCTR) | 02/08/2018 | 02/08/2018 | Safety and Efficacy study assessing Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | Open Label Extension Study to Evaluate the Long-Term Safety and Efficacy of Pegunigalsidase Alfa (PRX-102) in Patients With Fabry Disease | MedDRA version: 24.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: PEGUNIGALSIDASE ALFA Other descriptive name: CHF6657 | Chiesi Farmaceutici S.p.A | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 110 | Phase 3 | United States;Czechia;Slovenia;Finland;Spain;United Kingdom;Italy;France;Czech Republic;Hungary;Canada;Australia;Netherlands;Norway | ||
| 228 | NCT03568175 (ClinicalTrials.gov) | August 1, 2018 | 1/6/2018 | A Study of JR-141 in Patients With Mucopolysaccharidosis II | A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Completed | N/A | N/A | Male | 28 | Phase 2/Phase 3 | Japan |
| 229 | NCT03359213 (ClinicalTrials.gov) | July 26, 2018 | 17/11/2017 | A Study of JR-141 in Patients With Mucopolysaccharidosis II | Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Completed | 0 Years | N/A | Male | 18 | Phase 2 | Brazil |
| 230 | EUCTR2017-003369-85-NL (EUCTR) | 24/07/2018 | 16/05/2018 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Not Recruiting | Female: yes Male: yes | 99 | Phase 3 | United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Netherlands;Germany;Norway | ||
| 231 | EUCTR2015-001578-17-IT (EUCTR) | 18/07/2018 | 04/11/2020 | An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease - SHP-GCB-402 | Gaucher Disease MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: VPRIV - 400 U - POLVERE PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO(VETRO) 1 FLACONCINO Product Name: Velaglucerase alfa Product Code: [-] INN or Proposed INN: velaglucerasi alfa Other descriptive name: GLUCOCEREBROSIDASE UMANO GENE-ATTIVATO | SHIRE HUMAN GENETIC THERAPIES, INC | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 4 | United States;Spain;Israel;Germany;United Kingdom;Italy | ||
| 232 | EUCTR2017-001528-23-IT (EUCTR) | 17/07/2018 | 10/11/2020 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme¿ (agalsidase beta) or Replagal¿ (agalsidase alfa) - Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | PROTALIX LTD | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 30 | Phase 3 | United States;Czechia;Taiwan;Spain;Turkey;Austria;Italy;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway | ||
| 233 | EUCTR2017-001528-23-DK (EUCTR) | 04/07/2018 | 10/04/2018 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 3 | United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway | ||
| 234 | EUCTR2016-000301-37-IT (EUCTR) | 02/07/2018 | 20/06/2018 | Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3 | Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS | Congenital, hereditary and neonatal diseases MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cerdelga Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Trade Name: Cerezyme Product Name: Imiglucerase INN or Proposed INN: IMIGLUCERASE Other descriptive name: Cerezyme Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 120 | Phase 3 | France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;United Kingdom;Italy;Sweden | ||
| 235 | EUCTR2017-003369-85-AT (EUCTR) | 29/06/2018 | 27/04/2018 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Not Recruiting | Female: yes Male: yes | 99 | Phase 3 | United States;Spain;Ireland;Austria;Italy;Switzerland;United Kingdom;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 236 | EUCTR2016-000301-37-ES (EUCTR) | 21/06/2018 | 06/07/2018 | Safety and Efficacy of Eliglustat with or without Imiglucerase in Pediatric Patients with Gaucher Disease (GD) Type 1 and Type 3 | Open label, Two Cohort (with and without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients with Gaucher Disease Type 1 and Type 3 - ELIKIDS | Congenital, hereditary and neonatal diseases MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cerdelga Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Trade Name: Cerezyme Product Name: Imiglucerase INN or Proposed INN: IMIGLUCERASE Other descriptive name: Cerezyme Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE Product Name: Eliglustat Product Code: GZ385660 INN or Proposed INN: Eliglustat Other descriptive name: ELIGLUSTAT TARTRATE | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 120 | Phase 3 | France;Egypt;Canada;Argentina;Spain;Turkey;Russian Federation;Netherlands;Italy;United Kingdom;Sweden | ||
| 237 | NCT03423186 (ClinicalTrials.gov) | June 19, 2018 | 29/1/2018 | A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients | An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients | Sanfilippo Syndrome Type A (MPS IIIA) | Drug: SOBI003 | Swedish Orphan Biovitrum | NULL | Completed | 12 Months | 72 Months | All | 6 | Phase 1/Phase 2 | United States;Germany;Turkey |
| 238 | NCT03643562 (ClinicalTrials.gov) | June 18, 2018 | 19/8/2018 | Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous System | Open-label Evaluation of Adrabetadex in Patients With Neurologic Manifestations of Niemann-Pick Type C Disease (NPC) | Niemann-Pick Type C Disease | Drug: Adrabetadex | Mandos LLC | NULL | Completed | 4 Years | N/A | All | 27 | Phase 3 | United States |
| 239 | NCT03513328 (ClinicalTrials.gov) | June 15, 2018 | 19/4/2018 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders | Bone Marrow Failure Syndrome;Thalassemia;Sickle Cell Disease;Diamond Blackfan Anemia;Acquired Neutropenia in Newborn;Acquired Anemia Hemolytic;Acquired Thrombocytopenia;Hemophagocytic Lymphohistiocytoses;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Common Variable Immunodeficiency;X-linked Lymphoproliferative Disease;Severe Combined Immunodeficiency;Hurler Syndrome;Mannosidosis;Adrenoleukodystrophy | Drug: Thiotepa--single daily dose;Drug: Thiotepa--escalated dose | University of Florida | Live Like Bella Pediatric Cancer Research | Active, not recruiting | 3 Months | 39 Years | All | 6 | Phase 1/Phase 2 | United States |
| 240 | NCT03746587 (ClinicalTrials.gov) | June 6, 2018 | 1/11/2018 | Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 | Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 | Gaucher Disease, Type 1;Gaucher Disease, Type 3 | Drug: Arimoclomol;Drug: Placebo oral capsule | KemPharm Denmark A/S | NULL | Terminated | 4 Years | 60 Years | All | 39 | Phase 2 | India |
| 241 | NCT05056636 (ClinicalTrials.gov) | June 1, 2018 | 31/8/2021 | Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients | Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients | Fabry Disease | Diagnostic Test: Plasma a-Gal A activity; Plasma Lyso-GB3; GLA genetic sequencing. | Chang Gung Memorial Hospital | NULL | Recruiting | 18 Years | N/A | All | 2000 | Taiwan | |
| 242 | EUCTR2017-003369-85-GB (EUCTR) | 14/05/2018 | 16/04/2018 | A research study to study the effects of a new oral drug called lucerastat in adults with Fabry disease | A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. - MODIFY | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lucerastat Product Code: ACT-434964 INN or Proposed INN: Lucerastat Other descriptive name: OGT923 | Idorsia Pharmaceuticals Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 99 | Phase 3 | United States;Spain;Ireland;Austria;United Kingdom;Italy;Switzerland;Canada;Belgium;Poland;Australia;Germany;Netherlands;Norway | ||
| 243 | NCT03488394 (ClinicalTrials.gov) | May 11, 2018 | 22/3/2018 | Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant | Phase I/II Study Evaluating Safety and Efficacy of Autologous Hematopoietic Stem and Progenitor Cells Genetically Modified With IDUA Lentiviral Vector Encoding for the Human a-L-iduronidase Gene for the Treatment of Patients Affected by Mucopolysaccharidosis Type I, Hurler Variant | Mucopolysaccharidosis IH | Genetic: Frozen autologous CD34+ hematopoietic stem and progenitor cells genetically modified with the lentiviral vector IDUA LV, encoding for the a-L-iduronidase cDNA, in their final formulation medium. | IRCCS San Raffaele | Fondazione Telethon | Active, not recruiting | N/A | 11 Years | All | 8 | Phase 1/Phase 2 | Italy |
| 244 | EUCTR2017-001528-23-CZ (EUCTR) | 07/05/2018 | 06/03/2018 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 3 | United States;Taiwan;Spain;Turkey;Austria;United Kingdom;Czech Republic;Canada;Belgium;Denmark;Germany;Netherlands;Norway | ||
| 245 | NCT03519646 (ClinicalTrials.gov) | April 23, 2018 | 20/3/2018 | Eliglustat on Gaucher Disease Type IIIB | Evaluation of the Safety in the Combination Usage of Cerdelga and Cerezyme in Type III Gaucher Disease Patients and the Efficacy on Soft Tissue Diseases. | Gaucher Disease, Type III | Drug: Eliglustat | National Taiwan University Hospital | Sanofi | Completed | 6 Years | N/A | All | 4 | N/A | Taiwan |
| 246 | NCT03721627 (ClinicalTrials.gov) | April 3, 2018 | 25/10/2018 | Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. | Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher Disease | Gaucher Disease;HCV | Drug: Ledipasvir/Sofosbuvir | Mansoura University Children Hospital | NULL | Unknown status | 6 Years | 18 Years | All | 10 | Phase 4 | Egypt |
| 247 | EUCTR2016-001318-11-NL (EUCTR) | 27/03/2018 | 17/10/2017 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Germany;Netherlands;United Kingdom | ||
| 248 | EUCTR2017-002430-23-IT (EUCTR) | 14/03/2018 | 09/03/2020 | Gene therapy study with autologous hemapoietic stem cells for patients affected by MPSIH | A phase I/II study evaluating safety and efficacy of autologous hematopoietic stem and progenitor cells genetically modified with IDUA lentiviral vector encoding for the human a-L-iduronidase gene for the treatment of patients affected by Mucopolysaccharidosis Type I, Hurler variant - TigetT10_MPS1H | Mucopolysaccharidosis type I Hurler MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Other descriptive name: Cellule CD34+ autologhe trasdotte con IDUA LV codificante per il cDNA dell'alfa-L-iduronidasi Trade Name: BUSILVEX - 6 MG/ML - CONCENTRATO PER SOLUZIONE PER INFUSIONE - USO ENDOVENOSO - FLACONCINO - 10 ML 8 FLACONCINI INN or Proposed INN: BUSULFANO Other descriptive name: BUSULFANO Trade Name: FLUDARABINA ACCORD - 25 MG/ML CONCENTRATO PER SOLUZIONE INIETTABILE O PER INFUSIONE 5 FLACONCINI IN VETRO DA 2 ML INN or Proposed INN: FLUDARABINA FOSFATO Other descriptive name: FLUDARABINA FOSFATO Trade Name: MABTHERA - 2 FIALE 100 MG 10 ML INN or Proposed INN: RITUXIMAB Other descriptive name: RITUXIMAB Trade Name: MYELOSTIM - 34 1 FLACONCINO LIOFILIZZATO 33.6 MIU + SIRINGA PRERIEMPITA SOLVENTE 1 ML INN or Proposed INN: LENOGRASTIM Other descriptive name: LENOGRASTIM Trade Name: MOZOBIL - 20 MG/ML - SOLUZIONE INIETTABILE - USO SOTTOCUTANEO - F | OSPEDALE SAN RAFFAELE | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 6 | Phase 1 | Italy | ||
| 249 | EUCTR2017-003083-13-GB (EUCTR) | 02/03/2018 | 11/01/2018 | Phase 2 study to evaluate Long-Term Safety and Efficacy of AX 250 in Patients with MPS Type IIIB | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB) MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: AX 250 INN or Proposed INN: Not available Other descriptive name: RHNAGLU-IGF2 | Allievex Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 33 | Phase 2 | United States;Taiwan;Spain;Turkey;Germany;Colombia;United Kingdom | ||
| 250 | NCT03454893 (ClinicalTrials.gov) | February 21, 2018 | 20/12/2017 | Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease | An Open-Label, Multinational Study Of The Efficacy And Safety of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-01 For Treatment-Naive Subjects With Classic Fabry Disease | Fabry Disease | Drug: AVR-RD-01 | AVROBIO | NULL | Terminated | 16 Years | 50 Years | Male | 11 | Phase 1/Phase 2 | United States;Australia;Brazil;Canada |
| 251 | NCT03784287 (ClinicalTrials.gov) | February 19, 2018 | 30/3/2018 | A Treatment Extension Study of Mucopolysaccharidosis Type IIIB | A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB;MPS III B | Drug: AX 250 | Allievex Corporation | NULL | Active, not recruiting | 0 Years | 18 Years | All | 20 | Phase 2 | United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom |
| 252 | NCT03204370 (ClinicalTrials.gov) | February 1, 2018 | 7/6/2017 | Natural History of Atypical Morquio A Disease | Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center | Mucopolysaccharidosis IV A | Drug: Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM] | GOIZET | BioMarin Pharmaceutical | Active, not recruiting | 18 Years | N/A | All | 10 | France | |
| 253 | NCT03392987 (ClinicalTrials.gov) | January 25, 2018 | 12/12/2017 | A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD) | A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD) | Lysosomal Storage Disease;Metachromatic Leukodystrophy | Genetic: OTL-200 | Orchard Therapeutics | Ospedale San Raffaele | Active, not recruiting | N/A | 6 Years | All | 10 | Phase 2 | Italy |
| 254 | EUCTR2016-001988-36-IT (EUCTR) | 12/01/2018 | 05/11/2020 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis - A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy | Alfa-mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa Product Code: [rhLAMAN] INN or Proposed INN: VELMANASE ALFA Other descriptive name: recombinant human alpha-mannosidase | CHIESI FARMACEUTICI S.P.A. | NULL | Not Recruiting | Female: yes Male: yes | 3 | Phase 2 | France;Denmark;Austria;Germany;Italy | ||
| 255 | NCT03370653 (ClinicalTrials.gov) | December 30, 2017 | 23/11/2017 | A Study in MPS VI to Assess Safety and Efficacy of Odiparcil | A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI | Mucopolysaccharidosis VI | Drug: Odiparcil;Other: Placebo | Inventiva Pharma | NULL | Completed | 16 Years | N/A | All | 20 | Phase 2 | France;Germany;Portugal;United Kingdom |
| 256 | EUCTR2017-003083-13-ES (EUCTR) | 27/12/2017 | 27/11/2017 | Phase 2 study to evaluate Long-Term Safety and Efficacy of BMN 250 in Patients with MPS Type IIIB | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Safety and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPSIIIB) MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: BMN 250 INN or Proposed INN: Not available Other descriptive name: RHNAGLU-IGF2 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 33 | Phase 2 | Germany;Colombia;United Kingdom;United States;Taiwan;Argentina;Spain;Turkey;Australia | ||
| 257 | EUCTR2017-001528-23-ES (EUCTR) | 21/12/2017 | 16/10/2017 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 3 | United States;Czech Republic;Canada;Belgium;Spain;Turkey;Denmark;Netherlands;Germany;Italy;United Kingdom | ||
| 258 | EUCTR2016-001318-11-DE (EUCTR) | 15/12/2017 | 10/01/2017 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | ||
| 259 | EUCTR2017-001730-26-IT (EUCTR) | 30/11/2017 | 08/04/2019 | Gene therapy study using a frozen formulation of OTL-200 in patients with Metachromatic Leukodystrophy (MLD). | A single arm, open label, clinical study of cryopreserved autologous CD34+ cells transduced with lentiviral vector containing human ARSA cDNA OTL-200, for the treatment of early onset Metachromatic Leukodystrophy (MLD). - A clinical study using cryopreserved OTL-200 for treatment of MLD. | Metachromatic Leukodystrophy MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: OTL-200 Dispersion for Infusion Product Code: [OTL-200] | Orchard Therapeutics (Europe) Ltd | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Phase 3 | Italy | ||
| 260 | EUCTR2016-000378-38-IT (EUCTR) | 20/11/2017 | 06/02/2018 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta - Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Trade Name: FABRAZYME - 35 MG POLVERE PER CONCENTRATO PER SOLUZIONE PER INFUSIONE ENDOVENOSA 1 FLACONCINO Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA | PROTALIX LTD | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Spain;Turkey;Italy;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway | ||
| 261 | EUCTR2017-002158-35-GB (EUCTR) | 16/11/2017 | 08/08/2017 | Study to investigate the fate of odiparcil since its administration up to the point is completely eliminated, its safety and efficacy in patients 16 years and above with mucopolysaccharidosis (MPS) type VI | A phase IIa study to investigate safety, Pharmacokinetics, and efficacy of odiparcil in patients 16 years and above with mucopolysaccharidosis (MPS) type VI. | Mucopolysaccharidosis (MPS) type VI. MedDRA version: 20.1;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Odiparcil Product Code: IVA 336 INN or Proposed INN: Odiparcil | Inventiva S.A. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Portugal;France;Germany;United Kingdom | ||
| 262 | EUCTR2016-001318-11-SI (EUCTR) | 13/11/2017 | 05/10/2017 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | ||
| 263 | NCT03639844 (ClinicalTrials.gov) | November 6, 2017 | 17/8/2018 | BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study | Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR aß+T Cells In Pediatric Patients Affected by Hematological and Other Disorders | Hurler Syndrome;Inherited Metabolic Disorder;Lysosomal Storage Disorder;Metachromatic Leukodystrophy;Inborn Errors of Metabolism | Biological: rivogenlecleucel;Drug: rimiducid | Bellicum Pharmaceuticals | NULL | No longer available | 3 Months | 21 Years | All | United States | ||
| 264 | EUCTR2017-001528-23-GB (EUCTR) | 18/10/2017 | 28/06/2017 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 3 | United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom | ||
| 265 | NCT02939547 (ClinicalTrials.gov) | October 11, 2017 | 21/9/2016 | Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1) | A Phase I Study to Evaluate the Single and Multiple-dose Pharmacokinetics of Intravenous Trappsol Cyclo (HP-Beta-CD) in Patients With Niemann-Pick Disease Type C (NPC-1) and the Effects of Dosing Upon Biomarkers of NPC Disease | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-beta-cyclodextrin | Cyclo Therapeutics, Inc. | NULL | Completed | 18 Years | N/A | All | 13 | Phase 1 | United States |
| 266 | EUCTR2017-000645-48-FI (EUCTR) | 21/09/2017 | 31/05/2017 | Cystadane in the treatment of AGU | Open-label study to evaluate efficacy and safety of Cystadane for the treatment of aspartylglucosaminuria - Cystadane in the treatment of AGU | Aspartylglucosaminuria;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Cystadane anhydrous | Minna Laine | Prof. Ritva Tikkanen | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 2 | Finland | |||
| 267 | EUCTR2015-000891-85-GB (EUCTR) | 05/09/2017 | 06/03/2017 | Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease | Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Name: cerliponase alfa Product Code: BMN 190 INN or Proposed INN: cerliponase alfa Other descriptive name: recombinant human tripeptidyl peptidase-1 | BioMarin Pharmaceutical Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Germany;Italy;United Kingdom | ||
| 268 | EUCTR2017-001528-23-BE (EUCTR) | 21/08/2017 | 28/07/2017 | Phase 3 Study of the Safety, Efficacy & PK of pegunigalsidase alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients (BRIGHT) | A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy; Fabrazyme® (agalsidase beta) or Replagal™ (agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alfa | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 3 | United States;Czech Republic;Canada;Spain;Belgium;Turkey;Denmark;Netherlands;Germany;United Kingdom | ||
| 269 | EUCTR2016-000378-38-SI (EUCTR) | 14/08/2017 | 30/06/2017 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;Switzerland;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Norway;Netherlands;Germany | ||
| 270 | EUCTR2016-001988-36-DE (EUCTR) | 09/08/2017 | 14/02/2017 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis | Alfa-mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa INN or Proposed INN: VELMANASE ALFA Other descriptive name: recombinant human alpha-mannosidase | Chiesi Farmaceutici S.p.A. | NULL | Not Recruiting | Female: yes Male: yes | 3 | Phase 2 | Austria;Denmark;Germany | ||
| 271 | NCT03173521 (ClinicalTrials.gov) | July 17, 2017 | 12/4/2017 | Gene Therapy in Patients With Mucopolysaccharidosis Disease | A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects With Mucopolysaccharidosis Type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the Human ARSB Gene to Liver | Mucopolysaccharidosis Type VI | Biological: AAV2/8.TBG.hARSB | Fondazione Telethon | NULL | Active, not recruiting | 4 Years | 65 Years | All | 9 | Phase 1/Phase 2 | Italy;Turkey;Netherlands |
| 272 | NCT03180840 (ClinicalTrials.gov) | July 10, 2017 | 29/5/2017 | Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks | Phase 3 Open-Label Switch Over Study to Assess Safety, Efficacy & PK of Pegunigalsidase Alfa (PRX-102) 2mg/kg IV Every 4 Weeks for 52 Weeks in Fabry Disease Patients Currently Treated With Enzyme Replacement Therapy Fabrazyme® or Replagal™ | Fabry Disease | Biological: Pegunigalsidase alfa | Protalix | NULL | Completed | 18 Years | 60 Years | All | 30 | Phase 3 | United States;Belgium;Czechia;Denmark;Italy;Norway;United Kingdom;Canada;Netherlands;Spain;Taiwan;Turkey |
| 273 | NCT02921620 (ClinicalTrials.gov) | July 2017 | 26/9/2016 | Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease | A Randomized, Double Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease Patients | Fabry Disease | Biological: PRX-102;Other: Placebo | Protalix | NULL | Withdrawn | 14 Years | 45 Years | Male | 0 | Phase 3 | NULL |
| 274 | EUCTR2016-000378-38-NL (EUCTR) | 24/05/2017 | 17/01/2017 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany | ||
| 275 | NCT02702115 (ClinicalTrials.gov) | May 24, 2017 | 29/2/2016 | Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I | A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-318, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis I (MPS I) | MPS I | Biological: SB-318 | Sangamo Therapeutics | NULL | Active, not recruiting | 5 Years | N/A | All | 3 | Phase 1/Phase 2 | United States |
| 276 | NCT03041324 (ClinicalTrials.gov) | May 11, 2017 | 13/1/2017 | Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II | A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II) | Mucopolysaccharidosis II;MPS II | Biological: SB-913 | Sangamo Therapeutics | NULL | Terminated | 5 Years | 65 Years | All | 9 | Phase 1/Phase 2 | United States |
| 277 | EUCTR2016-001988-36-AT (EUCTR) | 10/04/2017 | 22/02/2017 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis | Alfa-mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa INN or Proposed INN: VELMANASE ALFA Other descriptive name: recombinant human alpha-mannosidase | Chiesi Farmaceutici S.p.A. | NULL | Not Recruiting | Female: yes Male: yes | 3 | Phase 2 | Denmark;Austria;Germany | ||
| 278 | NCT03128593 (ClinicalTrials.gov) | March 30, 2017 | 10/4/2017 | A Study of JR-141 in Patients With Mucopolysaccharidosis Type II | A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II | Mucopolysaccharidosis II | Drug: JR-141 | JCR Pharmaceuticals Co., Ltd. | NULL | Completed | 6 Years | N/A | Male | 14 | Phase 1/Phase 2 | Japan |
| 279 | NCT02956954 (ClinicalTrials.gov) | March 25, 2017 | 3/11/2016 | Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease | Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease (AFD): Impact of Treatment by Agalsidase Alpha (Replagal®) | Anderson-Fabry Disease | Drug: Enzyme replacement therapy (Agalsidase alpha (Replagal®));Procedure: Magnetic Resonance Imaging | University Hospital, Rouen | NULL | Unknown status | 18 Years | N/A | All | 25 | N/A | France |
| 280 | EUCTR2016-001318-11-GB (EUCTR) | 24/03/2017 | 04/10/2016 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | ||
| 281 | NCT02912793 (ClinicalTrials.gov) | March 20, 2017 | 19/8/2016 | Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients | A Phase I/II Study to Evaluate the Safety and PK of iv Trappsol Cyclo (HP-ß-CD) in Patients With Niemann-Pick Disease Type C NPC-1 and the Pharmacodynamic Effects of Treatment Upon Markers of Cholesterol Metabolism and Clinical Outcomes | Niemann-Pick Disease, Type C1 | Drug: Hydroxypropyl-beta-cyclodextrin | Cyclo Therapeutics, Inc. | NULL | Completed | 2 Years | N/A | All | 12 | Phase 1/Phase 2 | Israel;Sweden;United Kingdom |
| 282 | EUCTR2012-003775-20-IT (EUCTR) | 20/03/2017 | 15/03/2017 | A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | An Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 19.1;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: SHP611 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;United Kingdom;Italy | ||
| 283 | EUCTR2016-001988-36-FR (EUCTR) | 27/02/2017 | 18/09/2020 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis | Alfa-mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa INN or Proposed INN: VELMANASE ALFA Other descriptive name: recombinant human alpha-mannosidase | Chiesi Farmaceutici S.p.A. | NULL | Not Recruiting | Female: yes Male: yes | 3 | Phase 2 | France;Austria;Denmark;Germany;Italy | ||
| 284 | NCT03018730 (ClinicalTrials.gov) | February 23, 2017 | 9/1/2017 | Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) | Fabry Disease | Biological: PRX-102 (pegunigalsidase alfa) | Protalix | NULL | Completed | 18 Years | 60 Years | All | 22 | Phase 3 | Australia;Canada;Czechia;Germany;Netherlands;Norway;Slovenia;Spain;United Kingdom;Czech Republic |
| 285 | EUCTR2016-002328-10-IT (EUCTR) | 22/02/2017 | 17/06/2021 | Gene Therapy in patients with Mucopolysaccharidosis disease | A Phase I/II Open Label, Dose Escalation, Safety Study in Subjects with Mucopolysaccharidosis type VI (MPS VI) Using Adeno-Associated Viral Vector 8 to Deliver the human ARSB gene to Liver. - TIGEM1-MPSVI | The clinical trial will be conducted on patients with Mucopolysaccharidosis Type VI. MPS VI is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system involvement MedDRA version: 21.1;Level: PT;Classification code 10059318;Term: Hepatic cancer stage I;System Organ Class: 10029104 - Neoplasms benign, malignant and unspecified (incl cysts and polyps) MedDRA version: 20.1;Classification code 10054889;Term: Transaminases increased;System Organ Class: 10022891 - Investigations MedDRA version: 20.0;Level: LLT;Classification code 10037933;Term: Reaction anaphylactic anaphylactoid;System Organ Class: 100000004870 MedDRA version: 20.0;Classification code 10019717;Term: Hepatitis;System Organ Class: 10019805 - Hepatobiliary disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: AAV2/8.TBG.hARSB Product Code: [AAV2/8.TBG.hARSB] | FONDAZIONE TELETHON | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Phase 1 | Turkey;Netherlands;Italy | ||
| 286 | EUCTR2016-001318-11-CZ (EUCTR) | 19/01/2017 | 12/12/2016 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | ||
| 287 | EUCTR2015-005761-23-SE (EUCTR) | 19/01/2017 | 09/09/2016 | A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients | A Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes | Niemann-Pick disease type C MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Trappsol Cyclo INN or Proposed INN: hydroxypropyl-beta-cyclodextrin Other descriptive name: hydroxypropyl-beta-cyclodextrin | Cyclo Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 11 | Phase 1;Phase 2 | United Kingdom;Italy;Sweden | ||
| 288 | EUCTR2016-001318-11-ES (EUCTR) | 11/01/2017 | 24/10/2016 | Safety and Efficacy study assessing PRX 102 in Patients with Fabry Disease currently treated with REPLAGAL® (Agalsidase alfa) | An Open Label Study of the Safety and Efficacy of PRX 102 in Patients with Fabry Disease Currently Treated With REPLAGAL® (Agalsidase alfa) | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 3 | Czech Republic;Slovenia;Canada;Spain;Australia;Norway;Netherlands;Germany;United Kingdom | ||
| 289 | NCT02843035 (ClinicalTrials.gov) | January 4, 2017 | 20/7/2016 | Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension | A 4-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 With Venglustat Monotherapy Extension | Gaucher Disease Type 1;Gaucher Disease Type 3 | Drug: venglustat (GZ402671);Drug: imiglucerase | Genzyme, a Sanofi Company | NULL | Active, not recruiting | 18 Years | N/A | All | 13 | Phase 2 | United States;Germany;Japan;United Kingdom |
| 290 | NCT04353466 (ClinicalTrials.gov) | January 1, 2017 | 13/4/2020 | Assessing the Impact of Elelyso on Bone Involvement Currently Treated With Other ERTs | An Open-label, Investigator Initiated Clinical Trial to Asses Impact of Elelyso on Bone Involvement in Patients With Gaucher Disease Currently Treated With Other ERTs | Gaucher Disease, Type 1 | Procedure: quantitative chemical shift imaging (QCSI);Drug: Elelyso | Shaare Zedek Medical Center | Pfizer | Completed | 18 Years | N/A | All | 30 | N/A | NULL |
| 291 | EUCTR2016-000378-38-NO (EUCTR) | 27/12/2016 | 07/09/2016 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Belgium;Australia;Norway;Germany;Netherlands | ||
| 292 | EUCTR2016-000378-38-BE (EUCTR) | 05/12/2016 | 30/09/2016 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany | ||
| 293 | NCT02998879 (ClinicalTrials.gov) | December 2016 | 25/11/2016 | Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-Mannosidosis | Alpha-Mannosidosis | Drug: Velmanase Alfa (e.g. Lamazym) | Chiesi Farmaceutici S.p.A. | Cromsource | Completed | N/A | 6 Years | All | 5 | Phase 2 | Austria;Denmark;France;Germany;Italy |
| 294 | NCT02663024 (ClinicalTrials.gov) | December 2016 | 17/1/2016 | Study of Idursulfase-beta (GC1111) in Hunter Syndrome | Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) Patients | Mucopolysaccharidosis II | Biological: idursulfase beta;Biological: idursulfase | Green Cross Corporation | NULL | Not yet recruiting | 5 Years | 35 Years | Male | 20 | Phase 2 | NULL |
| 295 | EUCTR2015-004438-93-IT (EUCTR) | 08/11/2016 | 19/05/2016 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C. | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ | Orphazyme ApS | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 46 | Phase 2;Phase 3 | Switzerland;Italy;France;United States;Poland;Spain;Denmark;Germany;United Kingdom | ||
| 296 | NCT02995993 (ClinicalTrials.gov) | November 2016 | 14/12/2016 | Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease | An Open-Label, Multi-Center Study to Evaluate the Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGal in Patients With Fabry Disease | Fabry Disease | Drug: Moss-aGal (recombinant human alpha-galactosidase A produced in moss) | Greenovation Biotech GmbH | FGK Clinical Research GmbH | Completed | 18 Years | 65 Years | All | 6 | Phase 1 | Germany |
| 297 | EUCTR2014-002550-39-DE (EUCTR) | 20/10/2016 | 25/04/2016 | GZ/SAR402671 in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3 | A 208-week three-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3 - LEAP | Gaucher disease MedDRA version: 20.0;Level: PT;Classification code 10075699;Term: Gaucher's disease type III;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 15 | Phase 2 | United States;Japan;United Kingdom;Germany | ||
| 298 | EUCTR2016-001988-36-DK (EUCTR) | 05/10/2016 | 11/07/2016 | A study, conducted in several sites, with a duration of 2 years to evaluate the Safety and Efficacy of a new drug named velmanase alfa used in children with Alpha-Mannosidosis below 6 years of age | A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated velmanase alfa (recombinant human alpha-mannosidase) Treatment in Pediatric Patients below 6 years of age with Alpha-Mannosidosis | Alfa-mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Velmanase alfa INN or Proposed INN: VELMANASE ALFA Other descriptive name: recombinant human alpha-mannosidase | Chiesi Farmaceutici S.p.A. | NULL | Not Recruiting | Female: yes Male: yes | 3 | Phase 2 | Austria;Denmark;Germany;Italy | ||
| 299 | EUCTR2015-004438-93-DE (EUCTR) | 04/10/2016 | 10/05/2016 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol (hard gelatine capsule) Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol (hard gelatine capsule) Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol (hard gelatine capsule) INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol (HPMC capsule) Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol (HPMC capsule) Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol (HPMC capsule) Product Code: _ INN or Proposed INN: Arimoclomol citrate | Orphazyme A/S | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 57 | Phase 2;Phase 3 | United States;France;Spain;Poland;Denmark;Germany;United Kingdom;Switzerland;Italy | ||
| 300 | EUCTR2015-000104-26-PT (EUCTR) | 03/10/2016 | 03/05/2016 | A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injection | An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old | Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human beta-glucuronidase Product Code: UX003 INN or Proposed INN: Not available Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 15 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Portugal;Spain | ||
| 301 | JPRN-UMIN000023517 | 2016/10/01 | 01/10/2016 | A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C | A study on the efficacy and safety of cyclodextrin intrathecal long-term administration for Niemann-Pick disease type C - IT-HPBCD therapy for NPC (Long-term) | Niemann-Pick disease type C | 2-hydroxypropyl-beta-cyclodextrin (HPBCD) 20mg/kg/dose, every 3-4 weeks, for three years | Nara Medical University | NULL | Pending | 4years-old | 6years-old | Male and Female | 1 | Not selected | Japan |
| 302 | NCT03071341 (ClinicalTrials.gov) | October 2016 | 27/2/2017 | Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I | An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | NULL | Completed | 2 Years | N/A | All | 19 | Phase 1/Phase 2 | Brazil |
| 303 | EUCTR2015-005761-23-GB (EUCTR) | 26/09/2016 | 03/08/2016 | A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients | A Phase I/II study to evaluate the safety and pharmacokinetics of intravenous Trappsol Cyclo (HP-ß-CD) in patients with Niemann-Pick disease type C (NPC-1) and the pharmacodynamic effects of treatment upon markers of cholesterol metabolism and clinical outcomes | Niemann-Pick disease type C MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Trappsol Cyclo INN or Proposed INN: hydroxypropyl-beta-cyclodextrin Other descriptive name: hydroxypropyl-beta-cyclodextrin | CTD Holdings, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 12 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Italy;United Kingdom;Sweden | ||
| 304 | EUCTR2016-000378-38-HU (EUCTR) | 15/09/2016 | 11/07/2016 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Finland;Spain;Turkey;Italy;United Kingdom;France;Hungary;Czech Republic;Canada;Argentina;Belgium;Brazil;Australia;Germany;Netherlands;Norway | ||
| 305 | EUCTR2015-001578-17-DE (EUCTR) | 12/09/2016 | 22/12/2015 | An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease | Gaucher Disease MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: VPRIV 400 Units powder for solution of infusion INN or Proposed INN: VELAGLUCERASE ALFA Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 4 | United States;Spain;Turkey;Israel;Germany;Italy;United Kingdom;India | ||
| 306 | EUCTR2016-000378-38-GB (EUCTR) | 07/09/2016 | 08/07/2016 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Phase 3 | United States;Slovenia;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Argentina;Belgium;Brazil;Australia;Norway;Netherlands;Germany | ||
| 307 | EUCTR2016-000378-38-ES (EUCTR) | 22/08/2016 | 15/07/2016 | Safety and effectiveness study comparing PRX-102 and Agalsidase Beta on Kidney function for patients with Fabry Disease who have previously been treated with Agalsidase Beta | A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta | Fabry disease (a-galactosidase A deficiency) MedDRA version: 19.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Pegunigalsidase alfa Product Code: PRX-102 INN or Proposed INN: Pegunigalsidase alpha Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A Trade Name: Fabrazyme Product Name: Fabrazyme INN or Proposed INN: AGALSIDASE BETA Other descriptive name: N/A | Protalix Ltd. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 78 | Phase 3 | United States;Paraguay;Spain;Turkey;United Kingdom;Czech Republic;Hungary;Canada;Belgium;Australia;Germany;Netherlands;Norway | ||
| 308 | EUCTR2015-004438-93-ES (EUCTR) | 20/08/2016 | 15/07/2016 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C. | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 19.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: _ | Orphazyme ApS | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 46 | Phase 2;Phase 3 | United States;Spain;Denmark;Switzerland | ||
| 309 | EUCTR2013-000051-40-IT (EUCTR) | 19/08/2016 | 25/05/2016 | A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Long-Term Study to Assess the Ongoing Safety and Efficacy of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 19.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa (rhASM) Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 17 | Phase 2 | France;United States;Brazil;Germany;United Kingdom;Italy | ||
| 310 | EUCTR2015-000753-20-NL (EUCTR) | 16/08/2016 | 24/08/2015 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion. | A PHASE I/II OPEN LABEL STUDY IN MPS IIIB SUBJECTS TO INVESTIGATE THE SAFETY, BIODISTRIBUTION, PHARMACOKINETICS, AND PHARMACODYNAMICS/EFFICACY OF SBC-103 ADMINISTERED INTRAVENOUSLY | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 INN or Proposed INN: not available Other descriptive name: rhNAGLU Product Name: 89 Zirconium Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) (radiolabeled) Product Code: 89Zr-SBC-103 INN or Proposed INN: not available Other descriptive name: rhNAGLU radiolabelled | Alexion Pharmaceuticals, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 4 | Phase 2 | Netherlands | ||
| 311 | EUCTR2015-003904-21-ES (EUCTR) | 01/08/2016 | 15/04/2016 | Gene transfer clinical trial for Mucopolysaccharidosis IIIA | Phase I/II gene transfer clinical trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA | MPS IIIA is a devastating lysosomal storage disease, caused by a N-sulfoglucosamine sulfohydrolase gene defect. Infants with MPS IIIA appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: scAAV9.U1A.SGSH Product Code: scAAV9.U1A.SGSH INN or Proposed INN: scAAV9.U1A.SGSH Other descriptive name: scAAV9.U1A.SGSH | Abeona Therapeutics Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;Spain;Australia | ||
| 312 | JPRN-JMA-IIA00350 | 29/07/2016 | 04/06/2018 | Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II | Phase I/II clinical trial of idursulfase beta for mucopolysaccharidosis type II | Patients at the age between 6 months and 15 years with severe type mucopolysaccharidosis type II intravenously administered isursulfase at least for 24 weeks | Intervention type:DRUG. Intervention1:BHP001, Dose form:INJECTION, Route of administration:OTHER. | Torayuki Okuyama | Haruo Shintaku | Completed | >=6 MONTHS | <15 YEARS | Male | 6 | Phase 1-2 | Japan |
| 313 | EUCTR2015-004846-25-BE (EUCTR) | 15/07/2016 | 30/03/2016 | Anti-oxLDL IgM antibodies as a novel therapy for metabolic lipid diseases | Immunization against oxLDL in patients with lysosomal lipid diseases and associated metabolic disorders | Familial hypercholesterolemia Niemann-Pick disease type B (NPB)Niemann-Pick disease type C (NPC)Partial lipodystrophy in children and adults;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Trade Name: Prevenar13 Product Name: Prevenar13 | Maastricht University | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 4 | Belgium | |||
| 314 | NCT02800070 (ClinicalTrials.gov) | July 2016 | 15/4/2016 | Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease | Clinical Pilot Study of Autologous Stem Cell Transplantation of Cluster of Differentiation 34 Positive (CD34+) Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease | Fabry Disease | Biological: Lentivirus Alpha-gal A transduced stem cells | University Health Network, Toronto | Ozmosis Research Inc. | Active, not recruiting | 18 Years | 50 Years | Male | 5 | Phase 1 | Canada |
| 315 | NCT02574286 (ClinicalTrials.gov) | June 29, 2016 | 9/10/2015 | Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher Disease | Gaucher Disease | Drug: Velaglucerase alfa;Dietary Supplement: Vitamin D | Shire | NULL | Completed | 18 Years | 70 Years | All | 21 | Phase 4 | United States;Israel;Spain;United Kingdom |
| 316 | NCT02795676 (ClinicalTrials.gov) | June 2016 | 2/6/2016 | Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function | A Randomized, Double Blind, Active Control Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function in Patients With Fabry Disease Previously Treated With Agalsidase Beta | Fabry Disease | Biological: PRX-102 (pegunigalsidase alfa);Biological: agalsidase beta | Protalix | NULL | Completed | 18 Years | 60 Years | All | 78 | Phase 3 | United States;Czechia;Finland;France;Hungary;Italy;Netherlands;Norway;Slovenia;Spain;Switzerland;United Kingdom;Argentina;Australia;Belgium;Brazil;Canada;Czech Republic;Germany;Paraguay;Turkey |
| 317 | EUCTR2015-004438-93-GB (EUCTR) | 16/05/2016 | 24/10/2016 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C. | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: ARIMOCLOMOL CITRATE Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol Other descriptive name: ARIMOCLOMOL CITRATE Product Name: Arimoclomol INN or Proposed INN: ARIMOCLOMOL Other descriptive name: ARIMOCLOMOL CITRATE | Orphazyme A/S | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 57 | Phase 2;Phase 3 | United States;Spain;Poland;Denmark;Germany;Italy;Switzerland;United Kingdom | ||
| 318 | EUCTR2015-004438-93-DK (EUCTR) | 09/05/2016 | 11/03/2016 | A clinical study to investigate the study drug Arimoclomol in a double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C. | Arimoclomol prospective double blind, randomised, placebo-controlled study in patients diagnosed with Niemann Pick disease type C - Investigate study drug Arimoclomol with patients diagnosed with Niemann Pick disease type C. | Niemann Pick disease type C MedDRA version: 20.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol Product Code: _ INN or Proposed INN: Arimoclomol citrate Product Name: Arimoclomol Product Code: _ INN or Proposed INN: ARIMOCLOMOL | Orphazyme A/S | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 57 | Phase 2;Phase 3 | United States;Spain;Poland;Denmark;Germany;United Kingdom;Italy;Switzerland | ||
| 319 | NCT02843334 (ClinicalTrials.gov) | May 2016 | 21/7/2016 | Study of the Prevalence of Fabry Disease in French Dialysis Patients | Study of the Prevalence of Fabry Disease in French Dialysis Patients | Fabry Disease;End Stage Renal Disease;Renal Dialysis | Biological: Dried blood spot (DBS) sampling | Hospices Civils de Lyon | NULL | Recruiting | 18 Years | 70 Years | Both | 6000 | N/A | France |
| 320 | EUCTR2015-000359-26-ES (EUCTR) | 29/04/2016 | 03/02/2016 | First study in patients to assess safety, tolerability and inittial efficacy of the new gene therapy product to treat MPSIIIA. | Phase I/II safety, tolerability and initial efficacy study of adeno-associated viral vector serotype 9 containing human sulfamidase gene after intracerebroventricular administration to patients with MPSIIIA. | Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome) is an inherited lysosomal storage disease caused by a specific lysosomal enzyme deficiency that leads to intracellular accumulation of the GAG heparan sulphate (HS). It is caused by a deficiency of one of the four enzymes involved in the lysosomal degradation of HS. In the case of subtype A is the heparan N-sulfatase (SGSH).;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana Product Code: AAV9-CAG-coh-SGSH INN or Proposed INN: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana Other descriptive name: Vector viral adenoasociado de serotipo 9 que contiene el gen de la sulfamidasa humana | Laboratorios del Dr. Esteve, S.A. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 1;Phase 2 | Spain | |||
| 321 | EUCTR2012-003775-20-GB (EUCTR) | 25/04/2016 | 06/06/2016 | A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | An Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: SHP611 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;Japan;Italy;United Kingdom | ||
| 322 | EUCTR2015-001875-32-PT (EUCTR) | 18/04/2016 | 19/01/2016 | A long-term safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injection | A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects with MPS 7 | Mucopolysaccharidosis type 7 ( MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human beta-glucuronidase (rhGUS) Product Code: UX003 INN or Proposed INN: pending Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 12 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Portugal;Mexico;Brazil | ||
| 323 | EUCTR2013-003400-39-ES (EUCTR) | 14/04/2016 | 17/02/2016 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion. | A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 INN or Proposed INN: not available Other descriptive name: rhNAGLU | Alexion Pharmaceuticals, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 9 | Phase 1 | United States;Spain;United Kingdom | ||
| 324 | EUCTR2014-004804-31-DE (EUCTR) | 12/04/2016 | 06/08/2015 | A long-term study on changes in height and weight of children with MPS II receiving Elaprase and who started the treatment before the age of 6 years. | A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients with MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age | Hunter syndrome (Mucopolysaccharidosis II, [MPS II]);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: Elaprase INN or Proposed INN: IDURSULFASE | Shire Human Genetic Therapies, Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 20 | Phase 4 | United States;Serbia;Philippines;Saudi Arabia;Malaysia;Thailand;Costa Rica;Oman;Dominican Republic;Germany;Vietnam | ||
| 325 | EUCTR2015-000104-26-ES (EUCTR) | 05/04/2016 | 03/02/2016 | A safety, tolerability and efficacy study in MPS 7 patients less than 5 years of age receiving enzyme (UX003) replacement by intravenous injection | An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less than 5 Years Old | Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human beta-glucuronidase Product Code: UX003 INN or Proposed INN: Not available Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 15 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Portugal;United States;Spain | ||
| 326 | NCT02754076 (ClinicalTrials.gov) | April 2016 | 27/2/2016 | A Treatment Study of Mucopolysaccharidosis Type IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | MPS III B;Mucopolysaccharidosis Type IIIB | Drug: AX 250 | Allievex Corporation | NULL | Completed | 1 Year | 10 Years | All | 23 | Phase 1/Phase 2 | United States;Colombia;Germany;Spain;Taiwan;Turkey;United Kingdom |
| 327 | EUCTR2015-001985-25-DE (EUCTR) | 22/03/2016 | 16/11/2015 | Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: AX 250 INN or Proposed INN: Not available Other descriptive name: RHNAGLU-IGF2 | Allievex Corporation | NULL | Not Recruiting | Female: yes Male: yes | 33 | Phase 1;Phase 2 | Taiwan;Spain;Turkey;Australia;Colombia;Germany;United Kingdom | ||
| 328 | NCT02725580 (ClinicalTrials.gov) | March 9, 2016 | 16/3/2016 | Gene Therapy For Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Disease | Phase I/IIa Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis, Delivering the CLN6 Gene by Self-Complementary AAV9 | Variant Late-Infantile Neuronal Ceroid Lipofuscinosis | Genetic: AT-GTX-501 | Amicus Therapeutics | NULL | Completed | 1 Year | N/A | All | 13 | Phase 1/Phase 2 | United States |
| 329 | EUCTR2015-000371-26-IT (EUCTR) | 08/03/2016 | 06/02/2018 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose, dose-comparison study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: OLIPUDASE ALFA Product Code: GZ402665 INN or Proposed INN: OLIPUDASE ALFA | GENZYME CORPORATION | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 35 | Phase 2;Phase 3 | Portugal;United States;Spain;Turkey;Chile;Israel;Italy;United Kingdom;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan | ||
| 330 | EUCTR2015-001985-25-ES (EUCTR) | 02/03/2016 | 13/01/2016 | Phase 1/2 Study to Evaluate the Safety and Efficacy of BMN 250 in Patients with MPS IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 18.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: BMN 250 INN or Proposed INN: Not available Other descriptive name: RHNAGLU-IGF2 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 33 | Phase 1;Phase 2 | Taiwan;Brazil;Spain;Turkey;Australia;Germany;Colombia;United Kingdom | ||
| 331 | NCT02716246 (ClinicalTrials.gov) | March 2016 | 17/3/2016 | Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH | Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA | MPS IIIA;Sanfilippo Syndrome;Sanfilippo A;Mucopolysaccharidosis III | Biological: ABO-102 | Ultragenyx Pharmaceutical Inc | Abeona Therapeutics, Inc | Active, not recruiting | N/A | N/A | All | 28 | Phase 1/Phase 2 | United States;Australia;Spain;France;Germany |
| 332 | NCT02859363 (ClinicalTrials.gov) | March 2016 | 4/8/2016 | Fabry Disease in Cerebrovascular Disease | Improving the Diagnostic Rate of Fabry Disease in Patients With Cerebrovascular Involvement in Taiwan- a Cohort Screening Program | Fabry Disease | Genetic: 26 common Fabry mutation types in Taiwan | Chang Gung Memorial Hospital | Sanofi | Recruiting | 18 Years | 55 Years | Both | 700 | N/A | Taiwan |
| 333 | EUCTR2015-001578-17-ES (EUCTR) | 25/02/2016 | 13/01/2016 | An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naïve Patients with Type 1 Gaucher Disease | Gaucher Disease MedDRA version: 18.1;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: VPRIV 400 Units powder for solution of infusion INN or Proposed INN: VELAGLUCERASE ALFA Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 4 | United States;Canada;Spain;Israel;Germany;United Kingdom;Italy | ||
| 334 | EUCTR2015-001578-17-GB (EUCTR) | 17/02/2016 | 21/12/2015 | An Open-Label, Phase IV Study of Velaglucerase alfa on Bone Related Pathology in Adult, Treatment-Naïve Patients with Type 1 Gaucher Disease | An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect ofTreatment with Velaglucerase alfa on Bone-related Pathology inTreatment-naïve Patients with Type 1 Gaucher Disease | Gaucher Disease MedDRA version: 20.0;Level: PT;Classification code 10075697;Term: Gaucher's disease type I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: VPRIV 400 Units powder for solution of infusion INN or Proposed INN: VELAGLUCERASE ALFA Other descriptive name: Gene activated human glucocerebrosidase, velaglucerase alfa | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 19 | Phase 4 | United States;Canada;Spain;Israel;Germany;United Kingdom | ||
| 335 | EUCTR2015-000371-26-PT (EUCTR) | 15/02/2016 | 08/09/2015 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of olipudase alfa in Patients With Acid Sphingomyelinase Deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 36 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Portugal;United States;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan | ||
| 336 | NCT02678689 (ClinicalTrials.gov) | February 2016 | 15/1/2016 | A Safety, Tolerability, and Efficacy Study of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease | A Phase 2, Open-Label, Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 Years of Age With CLN2 Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 Disorder | Biological: BMN190 recombinant human tripeptidyl peptidase-1 (rhTPP1);Device: Intraventricular access device | BioMarin Pharmaceutical | NULL | Completed | 0 Years | 17 Years | All | 14 | Phase 2 | United States;Germany;Italy;United Kingdom |
| 337 | NCT02156674 (ClinicalTrials.gov) | January 26, 2016 | 3/6/2014 | Naglazyme After Allo Transplant for Maroteaux-Lamy Syndrome | Study of Administration of Intravenous Naglazyme® Following Allogeneic Transplantation for Maroteaux-Lamy Syndrome | Maroteaux-Lamy Syndrome | Drug: Naglazyme® | Masonic Cancer Center, University of Minnesota | BioMarin Pharmaceutical | Active, not recruiting | 3 Years | N/A | All | 1 | N/A | United States |
| 338 | EUCTR2015-000891-85-DE (EUCTR) | 19/01/2016 | 04/11/2015 | Phase 2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 2 Open-Label Study to Evaluate Safety, Tolerability, and Efficacy of Intracerebroventricular BMN 190 in Pediatric Patients < 18 years of age with CLN2 Disease | Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease MedDRA version: 20.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000157084;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Name: cerliponase alfa Product Code: BMN 190 INN or Proposed INN: cerliponase alfa Other descriptive name: recombinant human tripeptidyl peptidase-1 | BioMarin Pharmaceutical Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Phase 2 | Germany;Italy;United Kingdom | ||
| 339 | EUCTR2015-000371-26-NL (EUCTR) | 19/01/2016 | 20/07/2015 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of olipudase alfa in Patients With Acid Sphingomyelinase Deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 36 | Phase 2;Phase 3 | Portugal;United States;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Netherlands;Tunisia;Germany;Japan | ||
| 340 | NCT04120506 (ClinicalTrials.gov) | January 10, 2016 | 10/8/2018 | Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) | Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients With Type 1 Gaucher Disease, Previously on a Stable Dose of VPRIV for at Least 3 Months: an Extension of the Investigator-initiated Study | Gaucher Disease, Type 1 | Drug: VPRIV | Shaare Zedek Medical Center | Shire | Completed | 6 Years | 75 Years | All | 15 | Phase 4 | NULL |
| 341 | NCT03596398 (ClinicalTrials.gov) | January 1, 2016 | 15/6/2018 | Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients | Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients | Fabry Disease | Genetic: GLA gene | Chiayi Christian Hospital | Sanofi | Enrolling by invitation | 20 Years | 55 Years | All | 1000 | NULL | |
| 342 | NCT02030015 (ClinicalTrials.gov) | December 22, 2015 | 17/12/2013 | Synergistic Enteral Regimen for Treatment of the Gangliosidoses | Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) | GM1 Gangliosidoses;GM2 Gangliosidoses;Tay-Sachs Disease;Sandhoff Disease | Drug: miglustat;Other: Ketogenic Diet | University of Minnesota | Rare Diseases Clinical Research Network;National Center for Advancing Translational Science (NCATS);National Institute of Neurological Disorders and Stroke (NINDS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);Lysosomal Disease Network | Recruiting | N/A | 204 Months | All | 30 | Phase 4 | United States |
| 343 | NCT02004691 (ClinicalTrials.gov) | December 18, 2015 | 26/11/2013 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Sphingomyelin Lipidosis | Drug: placebo (saline);Drug: GZ402665 | Genzyme, a Sanofi Company | NULL | Active, not recruiting | 18 Years | N/A | All | 36 | Phase 2/Phase 3 | United States;Argentina;Australia;Belgium;Brazil;Bulgaria;Chile;France;Germany;Italy;Japan;Netherlands;Portugal;Spain;Tunisia;Turkey;United Kingdom |
| 344 | EUCTR2015-000371-26-ES (EUCTR) | 18/12/2015 | 05/10/2015 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeatdose, dose-comparison study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 18.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 35 | Phase 2/3 | Portugal;United States;Spain;Turkey;Chile;Israel;United Kingdom;Italy;France;Argentina;Brazil;Australia;Netherlands;Tunisia;Germany;Japan | ||
| 345 | EUCTR2015-003031-35-GB (EUCTR) | 20/11/2015 | 27/10/2015 | Immune Tolerance Induction with Methotrexate in Hurler Syndrome | A Single Centre Study Investigating the Safety and Efficacy of an Immune Modulation Regimen in Mitigating the Alloimmune Response to Intravenous Laronidase in Infants With Severe Mucopolysaccharidosis type I (Hurler syndrome) Prior to Haematopoietic Stem Cell Transplantation - Immune Tolerance Induction with Methotrexate in Hurler Syndrome | Severe Mucopolysaccharidosis Type I (Hurler syndrome, MPS IH) MedDRA version: 18.1;Level: LLT;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Methotrexate INN or Proposed INN: Methotrexate | Central Manchester University Hospitals NHS Foundation Trust | NULL | Not Recruiting | Female: yes Male: yes | 4 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United Kingdom | ||
| 346 | NCT02432144 (ClinicalTrials.gov) | November 10, 2015 | 22/4/2015 | A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) | A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 | Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VII | Drug: UX003 | Ultragenyx Pharmaceutical Inc | NULL | Completed | 5 Years | N/A | All | 12 | Phase 3 | United States;Brazil;Mexico;Portugal |
| 347 | EUCTR2015-001985-25-GB (EUCTR) | 06/11/2015 | 30/09/2015 | Phase 1/2 Study to Evaluate the Safety and Efficacy of AX 250 in Patients with MPS IIIB | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular AX 250 in Patients with Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) | Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B, MPS IIIB) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: N/A Product Code: AX 250 INN or Proposed INN: Not available Other descriptive name: RHNAGLU-IGF2 | Allievex Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 33 | Phase 1;Phase 2 | Taiwan;Spain;Turkey;Australia;Germany;Colombia;United Kingdom | ||
| 348 | NCT02597114 (ClinicalTrials.gov) | November 2015 | 3/11/2015 | Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 | An Extension Study of AGT-181-102 Evaluating Safety and Glycosaminoglycans (GAGs) in Adult Patients With Hurler-Scheie or Scheie Syndrome Who Have Completed 8-Weeks of Dosing With AGT-181 in Study AGT-181-102 | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | NULL | Completed | 18 Years | N/A | All | 3 | Phase 1 | NULL |
| 349 | NCT02455622 (ClinicalTrials.gov) | October 28, 2015 | 20/5/2015 | Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age | A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age | Hunter Syndrome | Drug: Elaprase for intravenous (IV) infusion | Takeda | Takeda Development Center Americas, Inc. | Active, not recruiting | N/A | 6 Years | Male | 21 | Phase 4 | United States;Dominican Republic;Germany;Malaysia;Philippines;Serbia;Thailand;Vietnam;Oman;Saudi Arabia |
| 350 | NCT02412787 (ClinicalTrials.gov) | October 28, 2015 | 1/4/2015 | Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 | An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive Impairment | Hunter Syndrome | Drug: Idursulfase-IT;Drug: Elaprase | Shire | NULL | Active, not recruiting | N/A | 18 Years | Male | 49 | Phase 2/Phase 3 | United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia |
| 351 | EUCTR2015-000371-26-GB (EUCTR) | 27/10/2015 | 02/06/2015 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A phase 2/3, multicenter, randomized, double-blinded, placebo-controlled, repeat dose study to evaluate the efficacy, safety, pharmacodynamics, and pharmacokinetics of olipudase alfa in patients with acid sphingomyelinase deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 36 | Phase 2;Phase 3 | United States;Portugal;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Tunisia;Germany;Netherlands;Japan | ||
| 352 | EUCTR2014-005194-37-DE (EUCTR) | 19/10/2015 | 28/04/2015 | A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern | A prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C | Niemann-Pick disease - type C MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: MIglustat Product Name: Zavesca Product Code: A16AX06 INN or Proposed INN: MIGLUSTAT | Orphazyme ApS | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 1 | Spain;Germany;Switzerland | ||
| 353 | NCT02618512 (ClinicalTrials.gov) | October 15, 2015 | 21/10/2015 | A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, Type B (MPS IIIB);Sanfilippo B | Drug: SBC-103 | Alexion Pharmaceuticals | NULL | Terminated | 5 Years | N/A | All | 3 | Phase 1/Phase 2 | United Kingdom |
| 354 | EUCTR2014-004995-49-GB (EUCTR) | 14/10/2015 | 08/05/2015 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry Disease | An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Hormonal diseases [C19] | Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: no Male: yes | 8 | Phase 2 | France;United States;Czech Republic;Poland;Russian Federation;United Kingdom | ||
| 355 | EUCTR2015-003105-41-GB (EUCTR) | 13/10/2015 | 08/09/2015 | Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | CNS Unmet Medical Need in Mucopolysaccharidosis: A Phase 2 Safety and Pharmacokinetics Study of Ataluren (COMPASS) - COMPASS | Nonsense mutation Mucopolysaccharidosis Type I MedDRA version: 18.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN | PTC Therapeutics Inc. | NULL | Not Recruiting | Female: yes Male: yes | 5 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United Kingdom | ||
| 356 | EUCTR2014-003198-40-DE (EUCTR) | 06/10/2015 | 07/08/2015 | Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase Deficiency | A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase DeficiencyRevised title further to the protocol amendment 1A phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase afa in pediatric patients aged <18 years with acid sphingomyelinase deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa (rhASM) Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;France;Brazil;Germany;United Kingdom;Italy | ||
| 357 | NCT03053089 (ClinicalTrials.gov) | October 2015 | 9/2/2017 | Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I | A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) | Mucopolysaccharidosis I | Drug: AGT-181 | ArmaGen, Inc | NULL | Completed | 2 Years | N/A | All | 21 | Phase 1/Phase 2 | Brazil |
| 358 | EUCTR2014-003960-20-IT (EUCTR) | 16/09/2015 | 05/11/2020 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease - NA | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan Nsulfatase (rhHNS) Product Code: [HGT-1410] INN or Proposed INN: NA Other descriptive name: Recombinant human heparan N-sulfatase | SHIRE HUMAN GENETIC THERAPIES, INC | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | United States;France;Spain;Netherlands;Germany;United Kingdom;Italy | ||
| 359 | EUCTR2014-005544-18-GB (EUCTR) | 16/09/2015 | 17/08/2015 | An Extension of the PB-102-F02 study with PRX-102 in adult patients with Fabry Disease. | A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients. - PB102F03: Extension Study of PRX-102 in Fabry Disease | Fabry disease MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: PRX-102 Product Code: PRX-102 INN or Proposed INN: PRX-102 | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 16 | Phase 1;Phase 2 | United States;Paraguay;Spain;United Kingdom | ||
| 360 | NCT02536937 (ClinicalTrials.gov) | September 2015 | 28/8/2015 | A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | An Open-label Two-stage Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild, Moderate and Severe Renal Impairment, and in Matched Subjects With Normal Renal Function | Gaucher Disease | Drug: eliglustat | Sanofi | NULL | Completed | 18 Years | 79 Years | All | 32 | Phase 1 | United States |
| 361 | NCT02583672 (ClinicalTrials.gov) | September 2015 | 21/8/2015 | Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) | Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications | Gaucher Disease Type 1 | Drug: N-acetylcysteine | University of Minnesota | Rare Diseases Clinical Research Network;National Center for Advancing Translational Sciences (NCATS);National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK);National Institute of Neurological Disorders and Stroke (NINDS);Lysosomal Disease Network | Recruiting | 18 Years | N/A | All | 50 | Phase 2 | United States |
| 362 | NCT02536911 (ClinicalTrials.gov) | September 2015 | 28/8/2015 | A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate | An Open-label Pharmacokinetic and Tolerability Study of Eliglustat Tartrate Given as a Single Dose in Subjects With Mild and Moderate Hepatic Impairment, and in Matched Subjects With Normal Hepatic Function | Gaucher Disease | Drug: eliglustat | Genzyme, a Sanofi Company | NULL | Completed | 18 Years | 79 Years | All | 24 | Phase 1 | United States |
| 363 | EUCTR2014-003960-20-NL (EUCTR) | 18/08/2015 | 05/03/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | United States;France;Spain;Germany;Netherlands;United Kingdom;Italy | ||
| 364 | EUCTR2015-000371-26-DE (EUCTR) | 14/08/2015 | 02/06/2015 | Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients with Acid Sphingomyelinase Deficiency | A Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled,Repeat Dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics andPharmacokinetics of olipudase alfa in Patients With Acid SphingomyelinaseDeficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 36 | Phase 2;Phase 3 | United States;Portugal;Spain;Turkey;Chile;United Kingdom;Italy;France;Argentina;Brazil;Australia;Bulgaria;Germany;Tunisia;Netherlands;Japan | ||
| 365 | EUCTR2014-003960-20-GB (EUCTR) | 10/08/2015 | 01/04/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Mucopolysaccharidosis Type IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 19.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 366 | EUCTR2015-001983-20-GB (EUCTR) | 06/08/2015 | 02/06/2015 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long term safety and effect of SBC-103 given by IV infusion. | A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 INN or Proposed INN: not available Other descriptive name: rhNAGLU | Alexion Pharmaceuticals, Inc | NULL | Not Recruiting | Female: yes Male: yes | 5 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United Kingdom | ||
| 367 | NCT02376751 (ClinicalTrials.gov) | August 2015 | 25/2/2015 | An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency | AN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY | Lysosomal Acid Lipase Deficiency | Drug: sebelipase alfa | Alexion Pharmaceuticals | NULL | No longer available | 8 Months | N/A | Both | N/A | NULL | |
| 368 | EUCTR2014-004995-49-PL (EUCTR) | 28/07/2015 | 15/06/2015 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry Disease | An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19] | Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: no Male: yes | 8 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Czech Republic;Poland;Russian Federation;United Kingdom | ||
| 369 | NCT02418455 (ClinicalTrials.gov) | July 21, 2015 | 12/4/2015 | Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age | An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old | Sly Syndrome;MPS VII;Mucopolysaccharidosis;Mucopolysaccharidosis VII | Drug: UX003 | Ultragenyx Pharmaceutical Inc | NULL | Completed | N/A | 5 Years | All | 8 | Phase 2 | United States;Portugal;Spain |
| 370 | EUCTR2014-005194-37-ES (EUCTR) | 13/07/2015 | 08/05/2015 | A non-therapeutic study in patients with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern | A prospective non-therapeutic study in patients diagnosed with Niemann-Pick disease type C in order to characterise the individual patient disease profile and historic signo-symptomatology progression pattern - Characterisation of Niemann-Pick disease type C | Niemann-Pick disease - type C MedDRA version: 18.0;Level: PT;Classification code 10029403;Term: Niemann-Pick disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: MIglustat Product Name: Zavesca Product Code: A16AX06 INN or Proposed INN: MIGLUSTAT | Orphazyme ApS | NULL | Not Recruiting | Female: yes Male: yes | 40 | Phase 1 | Spain;Germany;Switzerland | ||
| 371 | NCT02489344 (ClinicalTrials.gov) | July 7, 2015 | 30/6/2015 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease | An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed With Fabry Disease | Fabry Disease | Drug: GZ/SAR402671 | Genzyme, a Sanofi Company | NULL | Completed | 18 Years | N/A | Male | 8 | Phase 2 | United States;France;Poland;Russian Federation;United Kingdom |
| 372 | NCT02528617 (ClinicalTrials.gov) | July 2015 | 28/7/2015 | The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease | The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease | Gaucher Disease Type 1;Gaucher Disease Type 3 | Drug: Velaglucerase alfa | Baylor Research Institute | Texas Scottish Rite Hospital for Children | Withdrawn | 4 Years | 14 Years | All | 0 | Phase 4 | United States |
| 373 | NCT02371226 (ClinicalTrials.gov) | July 2015 | 19/2/2015 | Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I | A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Adult Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) | Mucopolysaccharidosis I | Drug: AGT-181 (HIRMAb-IDUA) | ArmaGen, Inc | NULL | Completed | 18 Years | N/A | All | 3 | Phase 1 | United States |
| 374 | NCT02520934 (ClinicalTrials.gov) | July 2015 | 6/8/2015 | Miglustat on Gaucher Disease Type IIIB | Evaluation of Combination Therapy With Miglustat and Enzyme Replacement Therapy on Gaucher Disease Type IIIB | Gaucher Disease | Drug: Miglustat;Drug: ERT | National Taiwan University Hospital | Actelion | Active, not recruiting | 6 Years | N/A | All | 19 | N/A | Taiwan |
| 375 | EUCTR2014-000533-22-FI (EUCTR) | 23/06/2015 | 05/06/2015 | Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals Inc | NULL | Not Recruiting | Female: yes Male: yes | 10 | Phase 2 | United States;Finland;Italy;United Kingdom | ||
| 376 | EUCTR2014-003960-20-DE (EUCTR) | 15/06/2015 | 26/01/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | An Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 17 | Phase 2 | France;United States;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 377 | EUCTR2014-004995-49-FR (EUCTR) | 11/06/2015 | 25/06/2015 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients with Fabry Disease | An Open-label, Multicenter, Multinational Extension Study of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 20.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Hormonal diseases [C19] | Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU Product Code: SAR402671, GZ402671 or GZ/SAR402671 Other descriptive name: Genz-682452-AU | Genzyme Corporation | NULL | Not Recruiting | Female: no Male: yes | 8 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;France;Czech Republic;Poland;Russian Federation;United Kingdom | ||
| 378 | EUCTR2011-004287-30-NL (EUCTR) | 29/05/2015 | 01/04/2015 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals Inc | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany | ||
| 379 | EUCTR2014-002701-38-DK (EUCTR) | 15/05/2015 | 20/01/2015 | A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry Disease | An Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat hydrochloride Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE Product Name: Inactive Reminder Capsules Product Code: Inactive Reminder Capsules INN or Proposed INN: NA Other descriptive name: Inactive Reminder Capsules | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Japan | ||
| 380 | EUCTR2014-003480-37-IT (EUCTR) | 06/05/2015 | 07/01/2015 | An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2). MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Code: BMN 190 INN or Proposed INN: TBD Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1) | BioMarin Pharmaceutical Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 22 | United States;Germany;United Kingdom;Japan;Italy | |||
| 381 | NCT02292654 (ClinicalTrials.gov) | May 1, 2015 | 7/11/2014 | Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency | A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency | Sphingomyelin Lipidosis | Drug: Olipudase alfa | Genzyme, a Sanofi Company | NULL | Completed | N/A | 17 Years | All | 20 | Phase 1/Phase 2 | United States;Brazil;France;Germany;Italy;United Kingdom |
| 382 | NCT02437253 (ClinicalTrials.gov) | May 2015 | 5/5/2015 | Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI | Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI | Mucopolysaccharidosis Type I;Mucopolysaccharidosis Type II;Mucopolysaccharidosis Type VI | Drug: Adalimumab;Other: Placebo | Los Angeles Biomedical Research Institute | NULL | Completed | 5 Years | N/A | All | 2 | Phase 1/Phase 2 | United States |
| 383 | EUCTR2014-005544-18-ES (EUCTR) | 29/04/2015 | 16/02/2015 | Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients | A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for 24 Months to Adult Fabry Patients | Fabry disease MedDRA version: 18.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;Paraguay;Spain;United Kingdom | ||
| 384 | EUCTR2014-004143-13-ES (EUCTR) | 09/04/2015 | 09/02/2015 | An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairment | An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment | Hunter syndrome and cognitive impairment MedDRA version: 18.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 18.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase-IT Product Code: HGT-2310 INN or Proposed INN: IDURSULFASE Other descriptive name: idursulfase-IT | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 42 | United States;Mexico;Canada;Argentina;Spain;Colombia;United Kingdom | |||
| 385 | NCT02350816 (ClinicalTrials.gov) | April 8, 2015 | 21/1/2015 | An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. | An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease | Sanfilippo Syndrome;Mucopolysaccharidosis (MPS) | Drug: HGT-1410 | Shire | NULL | Terminated | 12 Months | 48 Months | All | 17 | Phase 2 | United States;France;Germany;Italy;Netherlands;Spain;United Kingdom |
| 386 | NCT02262338 (ClinicalTrials.gov) | April 2015 | 2/10/2014 | Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome | A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome) | Mucopolysaccharidosis II | Drug: AGT-182 | ArmaGen, Inc | NULL | Completed | 18 Years | N/A | Male | 6 | Phase 1 | United States;Germany;Philippines;Netherlands |
| 387 | NCT02969200 (ClinicalTrials.gov) | April 2015 | 2/11/2016 | Fabry: Renal Function During Long-term ERT by 51Cr-EDTA Clearance | Fabry Disease: Renal Function During Long-term Enzyme Replacement Therapy Evaluated by Gold Standard GFR 51Cr-EDTA Clearance | Fabry Disease | Drug: Enzyme replacement therapy | Ulla Feldt-Rasmussen | NULL | Completed | N/A | N/A | All | 52 | Denmark | |
| 388 | NCT02422654 (ClinicalTrials.gov) | April 2015 | 14/4/2015 | Taste Evaluation of Different Liquid Formulations With Eliglustat | A Single-blind, Randomized, Unbalanced Crossover Design With 5 Vehicles, 5 Periods, and 5 Sequences, Repeated-doses (With no Ingestion) Study to Assess the Palatability of Eliglustat Prototype Liquid Formulations in Healthy Subjects | Gaucher Disease | Drug: eliglustat | Genzyme, a Sanofi Company | NULL | Completed | 18 Years | 55 Years | Both | 8 | Phase 1 | United States |
| 389 | EUCTR2014-004143-13-GB (EUCTR) | 19/03/2015 | 30/01/2015 | An extension peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairment | An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in Patients with Hunter Syndrome and Cognitive Impairment | Hunter syndrome and cognitive impairment MedDRA version: 20.1;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10056917;Term: Hunter's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase-IT Product Code: HGT-2310 INN or Proposed INN: IDURSULFASE Other descriptive name: idursulfase-IT | Shire Human Genetic Therapies, Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: no Male: yes | 54 | Phase 2;Phase 3 | United States;France;Mexico;Canada;Argentina;Spain;Australia;Colombia;United Kingdom | ||
| 390 | EUCTR2014-002701-38-ES (EUCTR) | 12/03/2015 | 16/01/2015 | A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry Disease | An Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 17.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat hydrochloride Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan | ||
| 391 | EUCTR2014-003480-37-GB (EUCTR) | 10/03/2015 | 20/10/2014 | An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis type 2 (CLN2). MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Code: BMN 190 INN or Proposed INN: cerliponase alfa Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1) | BioMarin Pharmaceutical Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 23 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Germany;Italy;United Kingdom | ||
| 392 | NCT02450604 (ClinicalTrials.gov) | March 5, 2015 | 18/5/2015 | Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain | Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain | Fabry's Disease;Chronic Pain | Genetic: Diagnosis of Fabry disease | University Hospital, Bordeaux | NULL | Recruiting | 6 Years | 80 Years | All | 1000 | N/A | France |
| 393 | EUCTR2014-003198-40-IT (EUCTR) | 27/02/2015 | 12/12/2014 | Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase Deficiency | A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Recombinant Human Acid Sphingomyelinase in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick disease) MedDRA version: 17.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rhASM Product Code: GZ402665 Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 12 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Brazil;Chile;Germany;United Kingdom;Italy | ||
| 394 | EUCTR2014-003198-40-GB (EUCTR) | 19/02/2015 | 26/11/2014 | Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age with Acid Sphingomyelinase Deficiency | A phase 1/2, multi-center, open-label, ascending dose study to evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and exploratory efficacy of olipudase alfa in pediatric patients Aged <18 Years With acid sphingomyelinase deficiency - ASCEND-Peds | Patients with acid sphingomyelinase deficiency (Niemann-Pick disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa (rhASM) Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;France;Brazil;Germany;Italy;United Kingdom | ||
| 395 | EUCTR2014-003960-20-ES (EUCTR) | 18/02/2015 | 26/01/2015 | An Extension Study to Evaluate the Safety and Efficacy of HGT-1410 Administration in Pediatric Patients with Sanfilippo Syndrome Type A | A Open-Label Extension of Study HGT-SAN-093 Evaluating theSafety and Efficacy Study of HGT-1410 (Recombinant HumanHeparan N Sulfatase) Administration via an Intrathecal DrugDelivery Device in Pediatric Patients with MucopolysaccharidosisType IIIA Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire human Genetic Therapies, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 396 | EUCTR2011-002750-31-CZ (EUCTR) | 16/02/2015 | 22/03/2013 | A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiency | A multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) | Lysosomal Acid Lipase Deficiency MedDRA version: 20.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Trade Name: KANUMA Product Name: sebelipase alfa Product Code: SBC-102 INN or Proposed INN: NA Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 55 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Brazil;Belgium;Romania;Croatia;Germany;Japan;Sweden | ||
| 397 | EUCTR2014-002701-38-BE (EUCTR) | 09/02/2015 | 04/12/2014 | A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry Disease | An Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat hydrochloride Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE Product Name: Inactive Reminder Capsules Product Code: Inactive Reminder Capsules INN or Proposed INN: NA Other descriptive name: Inactive Reminder Capsules | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan | ||
| 398 | NCT02930655 (ClinicalTrials.gov) | February 1, 2015 | 10/10/2016 | A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease | A Single-center, Open-label, Randomized, Versus a Control Group, Phase 1b Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Oral Lucerastat in Adult Subjects With Fabry Disease Receiving Enzyme Replacement Therapy | Fabry Disease | Drug: Lucerastat;Drug: Enzyme replacement therapy (ERT) | Idorsia Pharmaceuticals Ltd. | NULL | Completed | 18 Years | N/A | All | 14 | Phase 1 | Germany |
| 399 | NCT02478840 (ClinicalTrials.gov) | February 2015 | 9/2/2015 | Evaluation of Long-term Efficacy of Treatment With Lamazym | A Single Center, Open Label Clinical Trial Investigating the Long-term Efficacy of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) Treatment in Subjects With Alpha-Mannosidosis Who Previously Participated in Lamazym Trials | Alpha-Mannosidosis | Drug: Lamazym | Zymenex A/S | NULL | Completed | N/A | N/A | All | 18 | Phase 3 | Denmark |
| 400 | NCT02485899 (ClinicalTrials.gov) | February 2015 | 24/4/2015 | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease;CLN2 Disorder | Biological: BMN 190;Device: Intraventricular Access Device | BioMarin Pharmaceutical | NULL | Completed | 3 Years | 16 Years | All | 23 | Phase 1/Phase 2 | United States;Germany;Italy;United Kingdom |
| 401 | EUCTR2013-000336-97-DK (EUCTR) | 30/01/2015 | 03/12/2014 | A trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis who previously participated in Lamazym-trials | A multi-center, un-controlled, open-labeled trial of the long-term safety of Lamazym aftercare treatment of subjects with alpha-Mannosidosis | Alpha-Mannosidosis MedDRA version: 20.0;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN INN or Proposed INN: Velmanase alfa Other descriptive name: LAMAZYM | Chiesi Farmaceutici S.p.A. | NULL | Not Recruiting | Female: yes Male: yes | 13 | Phase 3 | France;Denmark | ||
| 402 | EUCTR2014-002701-38-GB (EUCTR) | 28/01/2015 | 09/12/2014 | A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry Disease | An Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 18.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat hydrochloride Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE Product Name: Inactive Reminder Capsules Product Code: Inactive Reminder Capsules INN or Proposed INN: NA Other descriptive name: Inactive Reminder Capsules | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan | ||
| 403 | EUCTR2014-002596-28-GB (EUCTR) | 28/01/2015 | 12/06/2015 | Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | A Phase 2 Study of Ataluren (PTC124) as Treatment for Nonsense Mutation Mucopolysaccharidosis Type I | Nonsense mutation Mucopolysaccharidosis Type I MedDRA version: 20.1;Level: PT;Classification code 10056886;Term: Mucopolysaccharidosis I;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN Product Name: ataluren Product Code: PTC124 INN or Proposed INN: ATALUREN | PTC Therapeutics Inc. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | Germany;United Kingdom | ||
| 404 | EUCTR2014-003480-37-DE (EUCTR) | 23/01/2015 | 03/11/2014 | An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients with CLN2 Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis type 2(CLN2). MedDRA version: 20.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Trade Name: Brineura Product Code: BMN 190 INN or Proposed INN: cerliponase alfa Other descriptive name: RECOMBINANT HUMAN TRIPEPTIDYL PEPTIDASE-1 (RHTPP1) | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 23 | Phase 2 | United States;Germany;Italy;United Kingdom | ||
| 405 | NCT02324049 (ClinicalTrials.gov) | January 22, 2015 | 15/12/2014 | Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB) | A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis IIIB | Drug: SBC-103 | Alexion Pharmaceuticals | NULL | Completed | 2 Years | 12 Years | All | 11 | Phase 1/Phase 2 | United States;Spain;United Kingdom |
| 406 | EUCTR2014-003950-15-DK (EUCTR) | 22/01/2015 | 25/11/2014 | Medical research trial for testing drug treatment of alpha-Mannosidosis | A single center, open label clinical trial investigating the long-term efficacy of rhLAMAN (recombinant human alpha-mannosidase or Lamazym) treatment in subjects with alpha-Mannosidosis who previously participated in Lamazym trials | alpha-Mannosidosis MedDRA version: 17.1;Level: LLT;Classification code 10032658;Term: Other specified disorders of carbohydrate transport and metabolism;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN INN or Proposed INN: recombinant human lysosomal alpha-mannosidase Other descriptive name: LAMAZYM | Zymenex A/S | NULL | Not Recruiting | Female: yes Male: yes | Denmark | ||||
| 407 | EUCTR2011-004287-30-GB (EUCTR) | 19/01/2015 | 11/04/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals Inc | NULL | Not Recruiting | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan | ||
| 408 | NCT02559830 (ClinicalTrials.gov) | January 2015 | 12/8/2015 | Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy | A Phase I/II Clinical Trial of Lentiviral Hematopoietic Stem Cell Gene Therapy for Treatment of Developed Metachromatic Leukodystrophy and Adrenoleukodystrophy | Metachromatic Leukodystrophy;Adrenoleukodystrophy | Genetic: transduced CD34+ hematopoietic stem cell | Shenzhen Second People's Hospital | Shenzhen University;Guangzhou Women and Children's Medical Center | Recruiting | 1 Year | 16 Years | All | 50 | Phase 1/Phase 2 | China |
| 409 | JPRN-UMIN000020032 | 2014/12/19 | 02/12/2015 | Intrathecal 2-hydroxypropyl-beta-cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick disease type C (NPC) | Intrathecal 2-hydroxypropyl-beta-cyclodextrin (HPBCD) therapy in adult-onset Niemann-Pick disease type C (NPC) - IT-HPBCD therapy in adult-onset NPC | Niemann-Pick disease type C | 2-hydroxypropyl-beta-cyclodextrin (HPBCD) 100-400mg, every 4 week, two years | Jichi Medical University, Saitama Medical Center | Saga UniversityKumamoto UniversityTohoku UniversityInstitute for Neurological Disorders | Complete: follow-up continuing | 20years-old | Not applicable | Male and Female | 2 | Not applicable | Japan |
| 410 | EUCTR2014-002701-38-AT (EUCTR) | 17/12/2014 | 12/11/2014 | A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry Disease | An Open-Label, Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in subjects with Fabry Disease | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 19.1;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat hydrochloride Product Code: AT1001 INN or Proposed INN: migalastat Other descriptive name: MIGALASTAT HYDROCHLORIDE Product Name: Inactive Reminder Capsules Product Code: Inactive Reminder Capsules INN or Proposed INN: NA Other descriptive name: Inactive Reminder Capsules | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan | ||
| 411 | NCT02230566 (ClinicalTrials.gov) | December 2014 | 22/8/2014 | A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) | A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 | MPS 7;Sly Syndrome;Mucopolysaccharidosis;MPS VII | Drug: UX003;Other: Placebo | Ultragenyx Pharmaceutical Inc | NULL | Completed | 5 Years | 35 Years | All | 12 | Phase 3 | United States |
| 412 | NCT02228460 (ClinicalTrials.gov) | November 2014 | 27/8/2014 | Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease | A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed With Fabry Disease | Fabry Disease | Drug: GZ/SAR402671 | Genzyme, a Sanofi Company | NULL | Completed | 18 Years | 49 Years | Male | 11 | Phase 2 | United States;France;Poland;Russian Federation;United Kingdom;Czech Republic;Czechia |
| 413 | EUCTR2013-005324-41-GB (EUCTR) | 07/10/2014 | 30/06/2014 | Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry Disease | A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 17.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: GZ402671 / SAR402671 Other descriptive name: Genz-682452-AA Product Code: GZ402671 / SAR402671 Other descriptive name: Genz-682452-AA | Genzyme Corporation | NULL | Not Recruiting | Female: no Male: yes | 8 | Phase 2 | France;United States;Czech Republic;Poland;Russian Federation;United Kingdom | ||
| 414 | NCT02194985 (ClinicalTrials.gov) | October 2014 | 17/7/2014 | Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease | An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease | Fabry Disease | Drug: migalastat HCl 150 mg | Amicus Therapeutics | NULL | Completed | 18 Years | N/A | All | 76 | Phase 3 | United States;Argentina;Australia;Austria;Belgium;Brazil;Canada;Denmark;Egypt;France;Italy;Japan;Spain;Turkey;United Kingdom |
| 415 | EUCTR2013-005324-41-CZ (EUCTR) | 19/09/2014 | 03/07/2014 | Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ402671 in Treatment-naïve Adult Male Patients with Fabry Disease | A Phase 2 Study to Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Enzyme Replacement Therapy (ERT) Treatment-naïve Adult Male Patients Diagnosed with Fabry Disease | Fabry disease MedDRA version: 17.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Code: GZ402671 / SAR402671 Other descriptive name: Genz-682452-AA Product Code: GZ402671 / SAR402671 Other descriptive name: Genz-682452-AA | Genzyme Corporation | NULL | Not Recruiting | Female: no Male: yes | 8 | Phase 2 | France;United States;Czech Republic;Poland;Russian Federation;United Kingdom | ||
| 416 | EUCTR2011-004287-30-IT (EUCTR) | 18/09/2014 | 18/04/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Synageva BioPharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark;Netherlands;Germany;Japan | ||
| 417 | EUCTR2014-000533-22-IT (EUCTR) | 18/09/2014 | 22/07/2014 | Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 17.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Synageva BioPharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 10 | Phase 2 | United States;Finland;United Kingdom;Italy | ||
| 418 | EUCTR2013-003450-24-IT (EUCTR) | 11/09/2014 | 09/05/2014 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 17.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;Spain;Netherlands;Germany;United Kingdom;Italy | ||
| 419 | NCT02254863 (ClinicalTrials.gov) | September 2014 | 23/9/2014 | UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells | Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells | Adrenoleukodystrophy;Batten Disease;Mucopolysaccharidosis II;Leukodystrophy, Globoid Cell;Leukodystrophy, Metachromatic;Neimann Pick Disease;Pelizaeus-Merzbacher Disease;Sandhoff Disease;Tay-Sachs Disease;Brain Diseases, Metabolic, Inborn;Alpha-Mannosidosis;Sanfilippo Mucopolysaccharidoses | Biological: DUOC-01 | Joanne Kurtzberg, MD | The Marcus Foundation | Recruiting | 1 Week | 22 Years | All | 40 | Phase 1 | United States |
| 420 | NCT02294877 (ClinicalTrials.gov) | September 2014 | 28/10/2014 | A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) | A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) | Mucopolysaccharidosis IV Type A;Morquio A Syndrome;MPS IVA | Drug: Vimizim® (elosulfase alfa) | BioMarin Pharmaceutical | ICON plc | Active, not recruiting | N/A | N/A | All | 425 | United States;Australia;Austria;Belgium;Canada;Czechia;Denmark;France;Ireland;Italy;Malaysia;Netherlands;Poland;Portugal;Puerto Rico;Taiwan;United Kingdom;Germany | |
| 421 | EUCTR2013-001152-35-ES (EUCTR) | 21/08/2014 | 04/07/2014 | A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injection | An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 | Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human beta-glucuronidase Product Code: UX003 INN or Proposed INN: Not available Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 5 | Phase 1;Phase 2 | Spain;United Kingdom | ||
| 422 | EUCTR2011-004287-30-DE (EUCTR) | 12/08/2014 | 13/05/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuitcals Inc | NULL | Not Recruiting | Female: yes Male: yes | 30 | Phase 2 | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Germany;Netherlands;Japan | ||
| 423 | JPRN-UMIN000023094 | 2014/08/01 | 10/07/2016 | A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C | A study on the safety and efficacy of cyclodextrin intrathecal administration in Niemann-Pick disease type C - IT-HPBCD therapy for NPC | Niemann-Pick disease type C | 2-hydroxypropyl-beta-cyclodextrin (HPBCD) 5-20mg/kg, every 4 weeks, for two years | Nara Medical University | Saga UniversityKumamoto University | Complete: follow-up continuing | 1years-old | 25years-old | Male and Female | 1 | Not selected | Japan |
| 424 | EUCTR2011-004287-30-BE (EUCTR) | 22/07/2014 | 26/05/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 17.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Synageva BioPharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan | ||
| 425 | EUCTR2013-003228-35-ES (EUCTR) | 16/07/2014 | 12/11/2013 | Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients | Study of the preliminary efficacy and safety of topical cysteamine formulated in viscous solution in cystinosis patients - Viscou solution cysteamina | Cystinosis MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: cysteamine (mercaptamine) viscous solution INN or Proposed INN: Mercaptamine Other descriptive name: MERCAPTAMINE HYDROCHLORIDE | Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca (VHIR) | NULL | Not Recruiting | Female: yes Male: yes | Spain | ||||
| 426 | EUCTR2013-003400-39-GB (EUCTR) | 15/07/2014 | 07/05/2014 | A Phase 1/2 open label study in MPS IIIB subjects to investigate the long-term safety and effect of SBC-103 given by IV infusion. | A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously | Mucopolysaccharidosis III, type B (MPS IIIB), Sanfilippo B MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Recombinant Human Alpha-N-Acetylglucosaminidase (rhNAGLU) Product Code: SBC-103 INN or Proposed INN: not available Other descriptive name: rhNAGLU | Alexion Pharmaceuticals, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 9 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Spain;United Kingdom | ||
| 427 | NCT02171104 (ClinicalTrials.gov) | July 10, 2014 | 20/6/2014 | MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis | MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG | Mucopolysaccharidosis Disorders;Hurler Syndrome;Hunter Syndrome;Maroteaux Lamy Syndrome;Sly Syndrome;Alpha-Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Glycoprotein Metabolic Disorders;Sphingolipidoses;Recessive Leukodystrophies;Globoid Cell Leukodystrophy;Metachromatic Leukodystrophy;Niemann-Pick B;Niemann-Pick C Subtype 2;Sphingomyelin Deficiency;Peroxisomal Disorders;Adrenoleukodystrophy With Cerebral Involvement;Zellweger Syndrome;Neonatal Adrenoleukodystrophy;Infantile Refsum Disease;Acyl-CoA Oxidase Deficiency;D-Bifunctional Enzyme Deficiency;Multifunctional Enzyme Deficiency;Alpha-methylacyl-CoA Racmase Deficiency;Mitochondrial Neurogastrointestingal Encephalopathy;Severe Osteopetrosis;Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation);Inherited Metabolic Disorders | Biological: Stem Cell Transplantation;Drug: IMD Preparative Regimen;Drug: Osteopetrosis Only Preparative Regimen;Drug: Osteopetrosis Haploidentical Only Preparative Regimen;Drug: cALD SR-A (Standard-Risk, Regimen A);Drug: cALD SR-B (Standard-Risk, Regimen B);Drug: cALD HR-D (High-Risk, Regimen C);Drug: cALD HR-D (High-Risk, Regimen D) | Masonic Cancer Center, University of Minnesota | NULL | Recruiting | N/A | 55 Years | All | 100 | Phase 2 | United States |
| 428 | EUCTR2011-004800-40-AT (EUCTR) | 08/07/2014 | 15/05/2014 | A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease. | An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat Hydrochloride Product Code: AT1001 INN or Proposed INN: Migalastat Hydrochloride Other descriptive name: GR181413A | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark | ||
| 429 | EUCTR2011-004287-30-HR (EUCTR) | 07/07/2014 | 03/09/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuitcals Inc | NULL | Not Recruiting | Female: yes Male: yes | 20 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan | ||
| 430 | NCT02112994 (ClinicalTrials.gov) | June 24, 2014 | 20/3/2014 | Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency | A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency | Drug: Sebelipase Alfa | Alexion Pharmaceuticals | NULL | Completed | 8 Months | N/A | All | 31 | Phase 2 | United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom |
| 431 | EUCTR2011-004287-30-DK (EUCTR) | 19/06/2014 | 03/04/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 19.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals inc | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Denmark;Australia;Netherlands;Germany;Japan | ||
| 432 | EUCTR2013-001479-18-GB (EUCTR) | 09/06/2014 | 01/05/2014 | High Dose Genistein in Sanfilippo Syndrome | A Phase III, Double Blinded, Randomised, Placebo Controlled Clinical Trial of High Dose Oral Genistein Aglycone in Patients with Sanfilippo Syndrome (Mucopolysaccharidosis III) - High Dose Genistein in Sanfilippo Syndrome | Sanfilippo syndrome (Mucopolysaccharidosis III) MedDRA version: 20.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Genistein aglycone Product Code: 500 0500 0 INN or Proposed INN: Genistein aglycone Other descriptive name: GENISTEIN | Manchester University NHS Foundation Trust | NULL | Not Recruiting | Female: yes Male: yes | 24 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United Kingdom | ||
| 433 | NCT02193867 (ClinicalTrials.gov) | June 6, 2014 | 7/7/2014 | Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency | Drug: Sebelipase Alfa | Alexion Pharmaceuticals | NULL | Terminated | N/A | 8 Months | All | 10 | Phase 2 | United States;Finland;Italy;United Kingdom |
| 434 | EUCTR2012-003775-20-CZ (EUCTR) | 06/06/2014 | 14/02/2014 | A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | An Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: SHP611 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Japan;Italy | ||
| 435 | NCT01801709 (ClinicalTrials.gov) | June 2014 | 28/1/2013 | Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy | A Phase I/II, Open Labeled, Monocentric Study of Direct Intracranial Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human ARSA cDNA to Children With Metachromatic Leukodystrophy. | Metachromatic Leukodystrophy | Genetic: intracerebral administration of AAVrh.10cuARSA | Institut National de la Santé Et de la Recherche Médicale, France | European Leukodystrophy Association;Assistance Publique - Hôpitaux de Paris | Active, not recruiting | 6 Months | 5 Years | All | 5 | Phase 1/Phase 2 | France |
| 436 | EUCTR2014-000533-22-GB (EUCTR) | 28/05/2014 | 24/04/2014 | Study of sebelipase alfa in young children with Lysosomal Acid Lipase Deficiency (LALD). | A Phase 2, Open Label, Multicenter Study to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokinetics of Sebelipase Alfa in Infants with Rapidly Progressive Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 18.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase Alfa Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Alexion Pharmaceuticals Inc | NULL | Not Recruiting | Female: yes Male: yes | 10 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Finland;Italy;United Kingdom | ||
| 437 | EUCTR2014-000350-11-DE (EUCTR) | 28/05/2014 | 10/03/2014 | Treatment of patients, who have Mucopolysaccharidosis Type I, receiving pentosan polysulfate subcutaneous injections weekly | An open label, randomized study to investigate the safety of weekly pentosan polysulfate injections in adult patients with Mucopolysaccharidosis Type I receiving enzyme replacement therapy. | Mucopolysaccharidosis type I (alpha-L-Iduronidase deficiency) MedDRA version: 17.0;Level: LLT;Classification code 10056888;Term: Mucopolysaccharidosis IS;System Organ Class: 100000004850 MedDRA version: 17.0;Classification code 10056887;Term: Mucopolysaccharidosis IH/S;Classification code 10028094;Term: Mucopolysaccharidosis IH;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Pentosan Polysulfat SP 54® injection solution Product Name: Pentosan Polysulphate SP54® INN or Proposed INN: PENTOSAN POLYSULFATE SODIUM Other descriptive name: Pentosan Polysulphate SP54 | Multiplex Pharma Holdings LLC | NULL | Not Recruiting | Female: yes Male: yes | 6 | Germany | |||
| 438 | EUCTR2011-004287-30-ES (EUCTR) | 28/05/2014 | 04/04/2014 | Study of sebelipase alfa in a broad population of patients with Lysosomal Acid Lipase Deficiency (LALD). | A Multicenter, Open-Label Study of Sebelipase Alfa in Patients with Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency (LALD) MedDRA version: 16.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipasa Alfa Product Code: SBC-102 INN or Proposed INN: sebelipasa alfa Other descriptive name: lipasa ácida lisosómica, esterasa, colesterol (gen humano LIPA), lipasa ácida lisosómica (gen humano LIPA); USAN: sebelipasa alfa | Synageva BioPharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 20 | Phase 2 | Netherlands;Germany;Japan;United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark | ||
| 439 | EUCTR2012-005430-11-IT (EUCTR) | 14/05/2014 | 20/01/2014 | Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease | Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). MedDRA version: 16.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N/A Product Code: BMN 190 INN or Proposed INN: TBD Other descriptive name: recombinant human tripeptidyl peptidase-1 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 1;Phase 2 | Germany;United Kingdom;Italy | ||
| 440 | NCT02232477 (ClinicalTrials.gov) | May 2014 | 3/9/2014 | Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I | An Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I | Mucopolysaccharidosis I;Cognitive Decline | Drug: Intrathecal recombinant human alpha iduronidase | agnes chen | University of Minnesota;UCSF Benioff Children's Hospital Oakland;University of California, Los Angeles;The Ryan Foundation;Rare Diseases Clinical Research Network;National Institute of Neurological Disorders and Stroke (NINDS) | Terminated | 6 Years | N/A | All | 6 | N/A | United States |
| 441 | EUCTR2013-003450-24-DE (EUCTR) | 09/04/2014 | 07/11/2013 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 442 | NCT02107846 (ClinicalTrials.gov) | April 2014 | 4/4/2014 | An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 | A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher Disease | Gaucher Disease | Drug: PRX-112 | Protalix | NULL | Completed | 18 Years | N/A | Both | 10 | Phase 2 | Israel |
| 443 | NCT02124070 (ClinicalTrials.gov) | March 26, 2014 | 25/4/2014 | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis | Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis | Cystinosis;Myopathy | Drug: rh Growth Hormone | National Human Genome Research Institute (NHGRI) | NULL | Withdrawn | 18 Years | 70 Years | All | 0 | Phase 1/Phase 2 | United States |
| 444 | NCT02055118 (ClinicalTrials.gov) | March 24, 2014 | 17/1/2014 | Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment | A Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment | Hunter Syndrome | Biological: idursulfase-IT;Other: No IT treatment | Shire | NULL | Completed | N/A | 18 Years | Male | 58 | Phase 2/Phase 3 | United States;Australia;Canada;France;Mexico;Spain;United Kingdom;Argentina;Colombia |
| 445 | EUCTR2013-003450-24-NL (EUCTR) | 03/03/2014 | 21/11/2013 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 17.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom | ||
| 446 | NCT02082327 (ClinicalTrials.gov) | March 2014 | 6/3/2014 | A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers | A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Single Dose Escalation Trial to Evaluate the Safety, Tolerability and Pharmacokinetics of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers With an Open-Label, Randomized, Two-Way Crossover Arm | Fabry Disease | Drug: IV migalastat HCl;Drug: IV placebo;Drug: oral migalastat HCl | Amicus Therapeutics | NULL | Completed | 18 Years | 45 Years | Both | 31 | Phase 1 | Netherlands |
| 447 | NCT02060526 (ClinicalTrials.gov) | February 26, 2014 | 10/2/2014 | Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease | Sanfilippo Syndrome | Drug: Recombinant human heparan N-sulfatase [rhHNS] | Shire | NULL | Completed | 12 Months | 48 Months | All | 21 | Phase 2 | United States;Argentina;France;Germany;Italy;Netherlands;Spain;United Kingdom |
| 448 | EUCTR2012-002773-64-IT (EUCTR) | 12/02/2014 | 21/11/2013 | A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosis | A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients withCystinosis - RP103-07 | Cystinosis MedDRA version: 16.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: CYSTAGON Product Name: Cystagon INN or Proposed INN: Cystagon Other descriptive name: Cysteamine bitartrate Trade Name: CYSTAGON Product Name: Cystagon INN or Proposed INN: Cystagon Other descriptive name: Cysteamine bitartrate | Raptor Therapeutics Inc. | NULL | Not Recruiting | Female: yes Male: yes | 60 | Phase 3 | France;United States;Belgium;Netherlands;Germany;United Kingdom;Italy | ||
| 449 | EUCTR2010-023953-12-IT (EUCTR) | 28/01/2014 | 24/09/2013 | Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency - ASCEND | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 16.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rhASM Product Code: GZ402665 Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 15 | Phase 2 | United States;France;Brazil;Chile;Tunisia;Germany;United Kingdom;Italy | ||
| 450 | EUCTR2012-002773-64-GB (EUCTR) | 22/01/2014 | 26/02/2013 | Study comparing the effectiveness of cysteamine bitartrate delayed release capsules (RP103) to Cystagon in Patients with Cystinosis(Adults and Children 12 years and older). | A Long-Term Open-Label, Safety and Superior Effectiveness Study ofCysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis | Cystinosis MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: PROCYSBI Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: PROCYSBI Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: Cystagon 50mg Product Name: Cystagon INN or Proposed INN: mercaptamine bitartrate Trade Name: Cystagon 150mg Product Name: Cystagon INN or Proposed INN: mercaptamine bitartrate | Horizon Pharma USA, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 60 | Phase 3 | France;United States;Belgium;Netherlands;Germany;Italy;United Kingdom | ||
| 451 | EUCTR2012-002773-64-BE (EUCTR) | 21/01/2014 | 19/04/2013 | A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis | A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - RP103-07 | Cystinosis MedDRA version: 14.1;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate ) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: Cystagon 50mg Product Name: Cystagon INN or Proposed INN: MERCAPTAMINE BITARTRATE Trade Name: Cystagon 150mg Product Name: Cystagon INN or Proposed INN: MERCAPTAMINE BITARTRATE | Raptor Therapeutics Inc. | NULL | Not Recruiting | Female: yes Male: yes | 60 | Phase 3 | United States;France;Belgium;Netherlands;Germany;United Kingdom;Italy | ||
| 452 | EUCTR2013-003450-24-ES (EUCTR) | 16/01/2014 | 12/11/2013 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 14.1;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 14.1;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: heparán N sulfatasa humana recombinante (rhHNS) Product Code: HGT-1410 INN or Proposed INN: No disponible Other descriptive name: Heparán N sulfatasa humana recombinante | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 2 | France;United States;Argentina;Spain;Germany;Netherlands;Italy;United Kingdom | ||
| 453 | EUCTR2013-003450-24-GB (EUCTR) | 08/01/2014 | 08/11/2013 | Safety and Efficacy Study of HGT-1410 Administration in Pediatric Patients with Early Stage of Sanfilippo Syndrome Type A | A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Early Stage Mucopolysaccharidosis Type III A Disease | Sanfilippo Syndrome Type A or Mucopolysaccharidosis (MPS IIIA) MedDRA version: 19.0;Level: LLT;Classification code 10056918;Term: Sanfilippo's syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.0;Level: PT;Classification code 10056890;Term: Mucopolysaccharidosis III;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human heparan N-sulfatase (rhHNS) Product Code: HGT-1410 INN or Proposed INN: Not available Other descriptive name: Recombinant human heparan N-sulfatase | Shire Human Genetic Therapies, Inc | NULL | Not Recruiting | Female: yes Male: yes | 18 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | France;United States;Argentina;Brazil;Spain;Netherlands;Germany;Italy;United Kingdom | ||
| 454 | NCT01917708 (ClinicalTrials.gov) | January 2014 | 24/7/2013 | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases | Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases | Hurler Syndrome;Fanconi Anemia;Glanzmann Thrombasthenia;Wiskott-Aldrich Syndrome;Chronic Granulomatous Disease;Severe Congenital Neutropenia;Leukocyte Adhesion Deficiency;Shwachman-Diamond Syndrome;Diamond-Blackfan Anemia;Dyskeratosis-congenita;Chediak-Higashi Syndrome;Severe Aplastic Anemia;Thalassemia Major;Hemophagocytic Lymphohistiocytosis;Sickle Cell Disease | Drug: Abatacept | Emory University | NULL | Completed | N/A | 21 Years | All | 10 | Phase 1 | United States |
| 455 | EUCTR2010-023953-12-FR (EUCTR) | 23/12/2013 | 29/09/2015 | Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 18.0;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rhASM Product Code: GZ402665 Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 15 | Phase 2 | United States;France;Brazil;Chile;Germany;Tunisia;Italy;United Kingdom | ||
| 456 | EUCTR2010-023953-12-GB (EUCTR) | 16/12/2013 | 26/07/2013 | Safety, Efficacy, and Pharmacokinetics Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Phase 2, Multi-Center, Randomized, Open-Label, Repeat Dose, Dose-Comparison Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 17.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: rhASM Product Code: GZ402665 Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Not Recruiting | Female: yes Male: yes | 15 | Phase 2 | France;United States;Brazil;Chile;Germany;Tunisia;Italy;United Kingdom | ||
| 457 | EUCTR2013-000051-40-GB (EUCTR) | 16/12/2013 | 22/07/2013 | A Long-Term Study of Recombinant Human Acid Sphingomyelinase in Patients With Acid Sphingomyelinase Deficiency | A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Patients with acid sphingomyelinase deficiency (Niemann-Pick Type B disease) MedDRA version: 20.1;Level: LLT;Classification code 10041515;Term: Sphingomyelin lipidosis;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Olipudase alfa (rhASM) Product Code: GZ402665 INN or Proposed INN: Olipudase alfa Other descriptive name: RECOMBINANT HUMAN ACID SPHINGOMYELINASE (rhASM) | Genzyme Corporation | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 25 | Phase 2 | United States;France;Belgium;Brazil;Germany;Italy;United Kingdom | ||
| 458 | NCT02004704 (ClinicalTrials.gov) | December 4, 2013 | 26/11/2013 | A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency | Sphingomyelin Lipidosis | Drug: GZ402665 | Genzyme, a Sanofi Company | NULL | Active, not recruiting | N/A | N/A | All | 25 | Phase 2 | United States;Belgium;Brazil;France;Germany;Italy;United Kingdom |
| 459 | NCT01981720 (ClinicalTrials.gov) | December 2013 | 5/11/2013 | Extension Study of PRX-102 for up to 60 Months | A Multi Center Extension Study of PRX-102 Administered by Intravenous Infusions Every 2 Weeks for up to 60 Months to Adult Fabry Patients | Fabry Disease | Biological: PRX-102 (pegunigalsidase alfa) | Protalix | NULL | Completed | 18 Years | N/A | All | 15 | Phase 1/Phase 2 | United States;Paraguay;Spain;United Kingdom |
| 460 | EUCTR2013-002554-78-ES (EUCTR) | 26/11/2013 | 20/09/2013 | An Extension of the PB102F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion. | An Extension of Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients | Fabry disease MedDRA version: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;Serbia;Paraguay;Spain;Australia;Israel;United Kingdom | ||
| 461 | EUCTR2013-002885-38-ES (EUCTR) | 26/11/2013 | 08/10/2013 | Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairment | A Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and early Cognitive Impairment. | Treatment of Hunter syndrome and cognitive impairment MedDRA version: 16.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase-IT Product Code: HGT-2310 INN or Proposed INN: IDURSULFASA Other descriptive name: idursulfase-IT | Shire HGT Inc | NULL | Not Recruiting | Female: no Male: yes | 42 | Phase 2;Phase 3 | United States;Mexico;Argentina;Spain;United Kingdom | ||
| 462 | EUCTR2012-004786-40-ES (EUCTR) | 13/11/2013 | 05/09/2013 | Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion to Adult Fabry Patients | A Phase 1/2, Open Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 12 Weeks to Adult Fabry Patients | Fabry disease MedDRA version: 16.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 Product Name: PRX102 Product Code: PRX102 INN or Proposed INN: PRX102 | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 1/2 | United States;Serbia;Paraguay;Argentina;Spain;Australia;Israel;United Kingdom | ||
| 463 | EUCTR2013-002885-38-GB (EUCTR) | 22/10/2013 | 11/09/2013 | Peadiatric study of Idursulfase-IT with Elaprase® in patients with Hunter Syndrome and early cognitive impairment | A Controlled,Randomized,Two-arm,Open-label,Assessor-blinded,Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction with Elaprase® in Pediatric Patients with Hunter Syndrome and Early Cognitive Impairment. | Long-term treatment of Hunter syndrome and cognitive impairment MedDRA version: 20.0;Level: PT;Classification code 10056889;Term: Mucopolysaccharidosis II;System Organ Class: 10010331 - Congenital, familial and genetic disorders ;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Name: Idursulfase-IT Product Code: HGT-2310 INN or Proposed INN: IDURSULFASE Other descriptive name: idursulfase-IT | Shire HGT Inc | NULL | Not Recruiting | Female: no Male: yes | 54 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;United States;Mexico;Canada;Argentina;Spain;Australia;Germany;Colombia;United Kingdom | ||
| 464 | EUCTR2011-004800-40-BE (EUCTR) | 07/10/2013 | 29/08/2013 | A Study using Migalastat to see the safety and usefulness of the drug in patients with Fabry Disease. | An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects with Fabry Disease. | Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A. MedDRA version: 17.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat Hydrochloride Product Code: AT1001 INN or Proposed INN: Migalastat Hydrochloride Other descriptive name: GR181413A | Amicus Therapeutics, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark | ||
| 465 | NCT03300453 (ClinicalTrials.gov) | September 17, 2013 | 15/6/2016 | Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome | Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome | Sanfilippo Syndrome B | Drug: rAAV2/5-hNAGLU | UniQure Biopharma B.V. | Venn Life Sciences;Institut Pasteur | Completed | 18 Months | 60 Months | All | 4 | Phase 1/Phase 2 | France |
| 466 | EUCTR2012-005430-11-DE (EUCTR) | 11/09/2013 | 10/04/2013 | Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2) MedDRA version: 17.1;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N/A Product Code: BMN 190 INN or Proposed INN: TBD Other descriptive name: recombinant human tripeptidyl peptidase-1 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 22 | Phase 1;Phase 2 | Germany;United Kingdom | ||
| 467 | EUCTR2012-003775-20-DE (EUCTR) | 11/09/2013 | 14/12/2012 | A safety and efficacy extension of study HGT-MLD-070 in Children with Metachromatic Leukodystrophy recieving enzyme (HGT-1110) replacement by intrathecal injection | An Open-label Extension of Study HGT-MLD-070 Evaluating Long Term Safety and Efficacy of Intrathecal Administration of HGT-1110 in Patients with Metachromatic Leukodystrophy | Treatment of Metachromatic Leukodystrophy MedDRA version: 20.0;Level: PT;Classification code 10067609;Term: Metachromatic leukodystrophy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Genetic Phenomena [G05] | Product Code: SHP611 INN or Proposed INN: Not available Other descriptive name: Recombinant Human Arylsulfatase A (rhASA) | Shire Human Genetics Therapies Inc | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 1;Phase 2 | France;Czechia;Czech Republic;Brazil;Denmark;Australia;Germany;United Kingdom;Italy;Japan | ||
| 468 | NCT01907087 (ClinicalTrials.gov) | September 2013 | 19/7/2013 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients With Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) Disease | Jansky-Bielschowsky Disease;Batten Disease;Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2;CLN2 Disease | Biological: BMN 190 | BioMarin Pharmaceutical | NULL | Completed | 3 Years | 15 Years | All | 24 | Phase 1/Phase 2 | United States;Germany;Italy;United Kingdom |
| 469 | EUCTR2013-002554-78-GB (EUCTR) | 29/08/2013 | 09/09/2013 | An Extension of the PB-102-F01 study: A clinical study in patients with Fabry disease to assess the safety, tolerability, and the body processing of the medication PRX102, which will be given as an infusion. | An Extension of Phase 1/2, Open-Label, Dose Ranging Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Exploratory Efficacy Parameters of PRX-102 Administered by Intravenous Infusion Every 2 Weeks for 38 Weeks (9 Months) to Adult Fabry Patients - PB-102-F02: Extension of the PB-102-F01 study (PRX-102 for ERT in Fabry Disease) | Fabry disease MedDRA version: 16.0;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: PRX-102 Product Code: PRX-102 INN or Proposed INN: PRX-102 | Protalix Ltd. | NULL | Not Recruiting | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;Paraguay;Argentina;Spain;Australia;Israel;Chile;United Kingdom | ||
| 470 | EUCTR2012-002773-64-NL (EUCTR) | 15/08/2013 | 01/11/2013 | Study comparing the effectiveness of cysteamine bitartrate delayed-release capsules (RP103) in Patients with Cystinosis (Adult and Children 12 years and older) | A Long-Term Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Patients with Cystinosis - Superiority, Safety and Efficacy Study of RP103 in Cystinosis | Cystinosis MedDRA version: 20.0;Level: PT;Classification code 10011777;Term: Cystinosis;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: PROCYSBI Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: PROCYSBI Product Name: Cysteamine bitartrate (INN: mercaptamine bitartrate) Product Code: RP103 INN or Proposed INN: mercaptamine bitartrate Trade Name: Cystagon 50mg Product Name: Cystagon INN or Proposed INN: mercaptamine bitartrate Trade Name: Cystagon 150mg Product Name: Cystagon INN or Proposed INN: mercaptamine bitartrate | Horizon Pharma USA, Inc. | NULL | Not Recruiting | Female: yes Male: yes | 60 | Phase 3 | France;United States;Belgium;Germany;Netherlands;Italy;United Kingdom | ||
| 471 | EUCTR2012-005430-11-GB (EUCTR) | 15/08/2013 | 08/04/2013 | Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2 | A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Efficacy of Intracerebroventricular BMN 190 in Patients with Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2) Disease | Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2). MedDRA version: 18.0;Level: LLT;Classification code 10052074;Term: Neuronal ceroid lipofuscinosis NOS;System Organ Class: 100000004850 ;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: N/A Product Code: BMN 190 INN or Proposed INN: cerliponase alfa Other descriptive name: recombinant human tripeptidyl peptidase-1 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 24 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | United States;Germany;Italy;United Kingdom | ||
| 472 | EUCTR2013-001152-35-GB (EUCTR) | 02/08/2013 | 25/06/2013 | A safety and efficacy study in MPS 7 patients receiving enzyme (UX003) replacement by intravenous injection | An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients with MPS 7 | Mucopolysaccharidosis type 7 (MPS 7, Sly syndrome);Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Recombinant human beta-glucuronidase Product Code: UX003 INN or Proposed INN: Not available Other descriptive name: RECOMBINANT HUMAN BETA GLUCURONIDASE; RHGUS | Ultragenyx Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 5 | Human pharmacology (Phase 1): yes Therapeutic exploratory (Phase 2): yes Therapeutic confirmatory - (Phase 3): no Therapeutic use (Phase 4): no | Spain;United Kingdom | ||
| 473 | NCT01908712 (ClinicalTrials.gov) | August 2013 | 16/7/2013 | Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients | A Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials | Alpha-Mannosidosis | Drug: Lamazym | Chiesi Farmaceutici S.p.A. | NULL | Completed | N/A | N/A | All | 13 | Phase 3 | France |
| 474 | EUCTR2012-000979-17-SE (EUCTR) | 30/07/2013 | 07/06/2013 | A Placebo-Controlled phase 3 trial of repeated Lamazym treatment of subjects with Alpha-Mannosidosis | A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Repeated Lamazym Treatment of Subjects with alpha-Mannosidosis - Phase III | Treatement of Alpha-Mannosidosis;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Lamazym Product Code: rhLAMAN INN or Proposed INN: Lamazym Other descriptive name: recombinant human alpha-mannosidase | Zymenex A/S | NULL | Not Recruiting | Female: yes Male: yes | 25 | Phase 3 | Spain;Belgium;Denmark;Germany;Sweden | ||
| 475 | EUCTR2010-020199-45-ES (EUCTR) | 23/07/2013 | 09/04/2013 | A Phase 3 Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) | A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)Extensión de un estudio multicéntrico, multinacional para evaluar la eficacia y seguridad a largo plazo de BMN 110 en pacientes con mucopolisacaridosis IVA (síndrome de Morquio A) | Mucopolysaccharidosis Type IVA MedDRA version: 16.0;Level: PT;Classification code 10028095;Term: Mucopolysaccharidosis IV;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) Product Code: BMN 110 INN or Proposed INN: Not Available Other descriptive name: recombinant human N-acetylgalactosamine-6-sulfatase, BMN 110 | BioMarin Pharmaceutical Inc. | NULL | Not Recruiting | Female: yes Male: yes | 162 | Phase 3 | Portugal;United States;Qatar;Saudi Arabia;Taiwan;Spain;Colombia;Italy;United Kingdom;France;Canada;Argentina;Brazil;Denmark;Australia;Netherlands;Germany;Norway;Japan;Korea, Republic of | ||
| 476 | EUCTR2011-002750-31-HR (EUCTR) | 17/07/2013 | 21/05/2014 | A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiency | A multicenter, randomized, placebo-controlled study of SBC-102 in patients with lysosomal acid lipase deficiency - ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) | Lysosomal Acid Lipase Deficiency MedDRA version: 17.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: sebelipase alfa Product Code: SBC-102 INN or Proposed INN: NA Other descriptive name: lysosomal acid lipase, Esterase, cholesterol (human gene LIPA), Lysosomal acid lipase (human gene LIPA); USAN: sebelipase alpha | Synageva BioPharma Corporation | NULL | Not Recruiting | Female: yes Male: yes | 55 | Phase 3 | Taiwan;Greece;Spain;Ukraine;Israel;Chile;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden | ||
| 477 | EUCTR2011-000032-28-IE (EUCTR) | 12/07/2013 | 16/05/2013 | A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in children with growth problems caused by a deficiency in the enzyme that breaks down fats | An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase D | Growth failure in children due to lysosomal acid lipase deficiency ( |