LYS ( DrugBank: - )
1 disease
| 告示番号 | 疾患名（ページ内リンク） | 臨床試験数 |
|---|---|---|
| 19 | ライソゾーム病 | 104 |
19. ライソゾーム病
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 | 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 | ||
| 2 | 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 | ||
| 3 | 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 |
| 4 | 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 | ||
| 5 | 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 | ||
| 6 | 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 |
| 7 | 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 |
| 8 | 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 |
| 9 | 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 | ||
| 10 | 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 | ||
| 11 | 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 | ||
| 12 | 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 | ||
| 13 | 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 |
| 14 | 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 |
| 15 | 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 |
| 16 | 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 | ||
| 17 | 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 | ||
| 18 | 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 | ||
| 19 | 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 |
| 20 | 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 | ||
| 21 | 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 | ||
| 22 | 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 | ||
| 23 | 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 | ||
| 24 | 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 | |
| 25 | 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 |
| 26 | 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 | ||
| 27 | 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 | ||
| 28 | 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 | |||
| 29 | 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 | |||
| 30 | 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 |
| 31 | 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 |
| 32 | 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 | |
| 33 | 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 | ||
| 34 | 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 | ||
| 35 | 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 | ||
| 36 | 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 | ||
| 37 | 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 | ||
| 38 | 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 | ||
| 39 | 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 | ||
| 40 | 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 | ||||
| 41 | 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 | ||
| 42 | 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 | ||
| 43 | 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 | ||
| 44 | 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 | ||
| 45 | 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 | ||
| 46 | 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 | ||
| 47 | 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 | ||
| 48 | 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 | ||
| 49 | 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 |
| 50 | 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 | ||
| 51 | 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 |
| 52 | 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 | ||
| 53 | 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 | ||
| 54 | 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 | ||
| 55 | 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 | ||
| 56 | 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 (Wolman disease). MedDRA version: 19.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 MedDRA version: 19.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 19.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: sebelipase alfa Product Code: SBC-102, recombinant human lysosomal acid lipase INN or Proposed INN: sebelipase alfa Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Alexion Pharmaceuticals Inc. | NULL | Not Recruiting | Female: yes Male: yes | 10 | Phase 2;Phase 3 | France;Egypt;United States;Saudi Arabia;Taiwan;Ireland;Turkey;Germany;Italy;United Kingdom | ||
| 57 | EUCTR2013-000336-97-FR (EUCTR) | 26/06/2013 | 28/09/2015 | 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 who previously participated in Lamazym-trials | Treatment of Alpha-Mannosidosis;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 | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 7 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | France;Denmark | ||
| 58 | EUCTR2011-002750-31-GR (EUCTR) | 26/06/2013 | 15/05/2013 | 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: 16.0;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 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | Taiwan;Greece;Spain;Ukraine;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Poland;Belgium;Brazil;Romania;Croatia;Germany;Sweden | ||
| 59 | EUCTR2011-000032-28-DE (EUCTR) | 31/05/2013 | 28/06/2011 | 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 Deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 15.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 MedDRA version: 15.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 15.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: Sebelipase alfa Product Code: SBC-102, recombinant human lysosomal acid lipase INN or Proposed INN: sebelipase alfa Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | United States;France;Taiwan;Germany;United Kingdom;Italy | |||
| 60 | EUCTR2011-002750-31-DE (EUCTR) | 29/05/2013 | 29/01/2013 | 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: 100000004915 ;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 | ||
| 61 | EUCTR2011-002750-31-ES (EUCTR) | 06/05/2013 | 06/03/2013 | 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: 15.1;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: 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;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Belgium;Poland;Brazil;Romania;Croatia;Germany;Sweden | ||
| 62 | NCT02053064 (ClinicalTrials.gov) | May 2013 | 16/1/2014 | Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy | Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. | Mucopolysaccharidosis Type III A;Sanfilippo Disease Type A | Genetic: SAF-301 | LYSOGENE | NULL | Completed | N/A | N/A | All | 4 | Phase 1/Phase 2 | France |
| 63 | EUCTR2011-002750-31-IT (EUCTR) | 15/04/2013 | 25/02/2013 | 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: 14.1;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: 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;Chile;Israel;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden | ||
| 64 | EUCTR2011-002750-31-GB (EUCTR) | 18/03/2013 | 11/02/2013 | 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: 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] | 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 | Phase 3 | United States;Taiwan;Greece;Spain;Ukraine;Chile;Israel;Russian Federation;Italy;France;Cyprus;Denmark;Australia;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Japan;Sweden | ||
| 65 | NCT01757184 (ClinicalTrials.gov) | January 22, 2013 | 17/12/2012 | Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency | A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency | Drug: Sebelipase Alfa;Drug: Placebo | Alexion Pharmaceuticals | NULL | Completed | 4 Years | N/A | All | 66 | Phase 3 | United States;Argentina;Australia;Croatia;Czechia;France;Germany;Italy;Japan;Mexico;Poland;Russian Federation;Spain;Turkey;United Kingdom;Brazil;Canada;Czech Republic;Greece;Israel |
| 66 | EUCTR2011-004800-40-DK (EUCTR) | 27/08/2012 | 13/07/2012 | 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;Denmark;Australia | ||
| 67 | EUCTR2011-000032-28-IT (EUCTR) | 07/08/2012 | 03/09/2012 | A reasarch 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 break 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 DEFICIENCY | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 15.0;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 15.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 15.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase (rhLAL) Product Code: SBC-102 Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | SYNAGEVA BIOPHARMA CORP. | NULL | Not Recruiting | Female: yes Male: yes | 10 | United States;Taiwan;Ireland;Germany;United Kingdom;Italy | |||
| 68 | NCT01626092 (ClinicalTrials.gov) | July 11, 2012 | 20/6/2012 | Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders | Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) | Lysosomal Storage Disease;Peroxisomal Disorder | Drug: Campath-1H;Drug: Clofarabine;Drug: Melphalan;Radiation: Total Body Irradiation with Marrow Boosting;Biological: Hematopoietic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate mofetil | Masonic Cancer Center, University of Minnesota | NULL | Completed | N/A | 55 Years | All | 3 | N/A | United States |
| 69 | EUCTR2011-004800-40-IT (EUCTR) | 15/05/2012 | 12/03/2012 | 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: 14.1;Level: PT;Classification code 10016016;Term: Fabry's disease;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Body processes [G] - Metabolic Phenomena [G03] | Product Name: Migalastat Hydrochloride Product Code: GR181413 INN or Proposed INN: Migalastat Hydrochloride Other descriptive name: GR181413A | GLAXOSMITHKLINE RESEARCH & DEVELOPMENT LTD. | NULL | Not Recruiting | Female: yes Male: yes | 100 | Egypt;United States;Belgium;Spain;Brazil;Turkey;Austria;Denmark;Australia;United Kingdom;Italy | |||
| 70 | EUCTR2011-004800-40-ES (EUCTR) | 13/02/2012 | 11/01/2012 | 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 alfa-galactosidase A. MedDRA version: 14.1;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: GR181413 INN or Proposed INN: Migalastat Hydrochloride Other descriptive name: GR181413A | GlaxoSmithKline Research & Development Limited | NULL | Not Recruiting | Female: yes Male: yes | 100 | Phase 3 | France;Egypt;United States;Belgium;Brazil;Spain;Turkey;Austria;Denmark;Australia;Italy;United Kingdom | ||
| 71 | EUCTR2011-004800-40-GB (EUCTR) | 25/01/2012 | 25/10/2011 | 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 | Human pharmacology (Phase 1): no Therapeutic exploratory (Phase 2): no Therapeutic confirmatory - (Phase 3): yes Therapeutic use (Phase 4): no | United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark | ||
| 72 | NCT03333200 (ClinicalTrials.gov) | January 11, 2012 | 24/4/2017 | Longitudinal Study of Neurodegenerative Disorders | Longitudinal Study of Neurodegenerative Disorders | MLD;Krabbe Disease;ALD;MPS I;MPS II;MPS III;Vanishing White Matter Disease;GM3 Gangliosidosis;PKAN;Tay-Sachs Disease;NP Deficiency;Osteopetrosis;Alpha-Mannosidosis;Sandhoff Disease;Niemann-Pick Diseases;MPS IV;Gaucher Disease;GAN;GM1 Gangliosidoses;Morquio Disease;S-Adenosylhomocysteine Hydrolase Deficiency;Batten Disease;Pelizaeus-Merzbacher Disease;Leukodystrophy;Lysosomal Storage Diseases;Purine Nucleoside Phosphorylase Deficiency;Multiple Sulfatase Deficiency Disease | Other: Palliative Care;Biological: Hematopoetic Stem Cell Transplantation | University of Pittsburgh | NULL | Recruiting | N/A | N/A | All | 1500 | United States | |
| 73 | NCT01488097 (ClinicalTrials.gov) | December 12, 2011 | 26/11/2011 | Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency | An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01 | Cholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase Deficiency;LAL-Deficiency | Drug: sebelipase alfa | Alexion Pharmaceuticals | NULL | Completed | 18 Years | N/A | All | 8 | Phase 2 | United States;Canada;Czechia;France;United Kingdom;Czech Republic |
| 74 | EUCTR2011-002880-42-GB (EUCTR) | 05/12/2011 | 12/09/2011 | A research study to look at the safety, effectiveness and the long-term 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 who were previously treated with SBC-102 | An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102 - Extension to LAL-CL03 in children with LAL deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 10 | United States;France;Germany;United Kingdom | |||
| 75 | EUCTR2011-001513-13-CZ (EUCTR) | 10/11/2011 | 12/09/2011 | A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01. | AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - SBC-102 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.1;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 100000004850 MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders;Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] | Product Name: recombinant human lysosomal acid lipase Product Code: SBC-102 INN or Proposed INN: sebelipase alfa Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA), lysosomal acid lipase (human gene LIPA) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 9 | Phase 2 | United States;France;Czech Republic;United Kingdom | ||
| 76 | NCT01473875 (ClinicalTrials.gov) | November 2011 | 10/11/2011 | Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 | An Open Label Multicenter Extension Study to Evaluate the Long-term Efficacy and Safety of SBC-102 in Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102 | Lysosomal Acid Lipase Deficiency;Wolman Disease | Drug: SBC-102 | Alexion Pharmaceuticals | NULL | Terminated | N/A | N/A | All | 10 | Phase 2/Phase 3 | France;United Kingdom |
| 77 | EUCTR2011-001513-13-GB (EUCTR) | 24/10/2011 | 31/08/2011 | A research study to look at the long-term safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. This is an extension study for those subjects who previously received treatment in study LAL-CL01. | AN OPEN LABEL MULTICENTER EXTENSION STUDY TO EVALUATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF SBC-102 IN ADULT SUBJECTS WITH LIVER DYSFUNCTION DUE TO LYSOSOMAL ACID LIPASE DEFICIENCY WHO PREVIOUSLY RECEIVED TREATMENT IN STUDY LAL-CL01 - Extension to LAL-CL01 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase Product Code: SBC-102 INN or Proposed INN: NA Other descriptive name: recombinant human lysosomal acid lipase (rhLAL), esterase, cholesterol (human gene LIPA) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 9 | 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;United Kingdom | ||
| 78 | NCT01474343 (ClinicalTrials.gov) | August 2011 | 10/11/2011 | Intracerebral Gene Therapy for Sanfilippo Type A Syndrome | An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. | Mucopolysaccharidosis Type III A;Sanfilippo Disease Type A | Genetic: SAF-301 | LYSOGENE | NULL | Completed | 18 Months | 6 Years | Both | 4 | Phase 1/Phase 2 | France |
| 79 | EUCTR2010-024068-16-CZ (EUCTR) | 26/07/2011 | 26/07/2011 | A research study to look at the safety, effectiveness and the effects on the body of a new drug, SBC-102, in adults with liver problems caused by a deficiency in the enzyme that breaks down fats. | An open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency. - SBC-102 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 9 | United Kingdom;Czech Republic;United States | |||
| 80 | NCT01371825 (ClinicalTrials.gov) | May 4, 2011 | 9/6/2011 | Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency | An Open Label, Multicenter, Dose Escalation Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of SBC-102 (Sebelipase Alfa) in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency | Lysosomal Acid Lipase Deficiency;Wolman Disease | Drug: Sebelipase alfa (SBC-102) | Alexion Pharmaceuticals | NULL | Completed | N/A | 24 Months | All | 9 | Phase 2/Phase 3 | United States;Egypt;France;Ireland;United Kingdom;Germany;India;Italy;Saudi Arabia;Taiwan;Turkey |
| 81 | NCT01307098 (ClinicalTrials.gov) | April 25, 2011 | 1/3/2011 | Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency | An Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease(CESD);Lysosomal Acid Lipase Deficiency;LAL-Deficiency | Drug: Sebelipase alfa 0.35 mg/kg;Drug: Sebelipase alfa 1 mg/kg;Drug: Sebelipase alfa 3 mg/kg | Alexion Pharmaceuticals | NULL | Completed | 18 Years | 65 Years | All | 9 | Phase 1/Phase 2 | United States;Czechia;France;United Kingdom;Czech Republic |
| 82 | EUCTR2011-000032-28-GB (EUCTR) | 18/04/2011 | 17/01/2011 | 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 Deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 14.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 10 | Phase 1;Phase 2;Phase 3 | France;United States;Taiwan;Ireland;Germany;Italy;United Kingdom | ||
| 83 | EUCTR2010-024068-16-GB (EUCTR) | 08/03/2011 | 10/01/2011 | SBC-102 in patients with liver dysfunction due to LAL deficiency | An open label multicenter study to evaluate the safety, tolerability and pharmacokinetics of SBC-102 in adult patients with liver dysfunction due to lysosomal acid lipase deficiency. - SBC-102 in patients with liver dysfunction due to LAL deficiency | Lysosomal Acid Lipase (LAL) Deficiency is a rare autosomal recessive lipid storage disorder that is caused by deficient activity or absence, of the lysosomal enzyme, LAL. It is an extremely rare disorder, with an estimated prevalence of less than 0.2 lives per 100,000. Although a single disease, LAL Deficiency has two phenotypes, Cholesteryl Ester Storage Disease (CESD) and Wolman Disease (WD). Both forms of the disease lead to the accumulation of fats, in various tissues and cell types. MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders | Product Name: recombinant human lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 9 | Czech Republic;United Kingdom | |||
| 84 | NCT01560182 (ClinicalTrials.gov) | April 9, 2010 | 16/3/2012 | Gene Therapy for Metachromatic Leukodystrophy (MLD) | A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy | Lysosomal Storage Disease;Metachromatic Leukodystrophy | Genetic: OTL-200 Gene Therapy | Orchard Therapeutics | Ospedale San Raffaele | Active, not recruiting | N/A | 7 Years | All | 20 | Phase 1/Phase 2 | Italy |
| 85 | NCT01136304 (ClinicalTrials.gov) | April 2010 | 31/5/2010 | Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) | Retrospective and Prospective Validation of a Disease Severity Score System (DS3) for Adults With Type 1 Gaucher Disease (GD1) | Gaucher Disease | Drug: Imiglucerase | University Research Foundation for Lysosomal Storage Diseases, Inc. | University of Pittsburgh | Completed | 18 Years | N/A | Both | 173 | N/A | United States |
| 86 | NCT00852358 (ClinicalTrials.gov) | June 2009 | 25/2/2009 | A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I | A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I | Cognitive Decline;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage Disease | Drug: laronidase | Patricia I. Dickson, M.D. | The Ryan Foundation;BioMarin Pharmaceutical;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);University of Minnesota - Clinical and Translational Science Institute;University of California, Los Angeles | Completed | 6 Years | N/A | Both | 9 | N/A | United States |
| 87 | NCT00744692 (ClinicalTrials.gov) | October 2008 | 28/8/2008 | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders | A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation | Non Malignant Disorders;Immunodeficiencies;Congenital Marrow Failures;Hemoglobinopathies;Inborn Errors of Metabolism;Sickle Cell;Thalassemia;Lysosomal Storage Disease | Biological: Unrelated Umbilical Cord Blood Transplant;Drug: Reduced Intensity Conditioning | Duke University | NULL | Completed | N/A | 21 Years | All | 22 | Phase 1 | United States |
| 88 | NCT00668564 (ClinicalTrials.gov) | March 2008 | 25/4/2008 | Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism | Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation | Hurler's Syndrome;Maroteaux-Lamy Syndrome;Sly Syndrome;Alpha Mannosidosis;Fucosidosis;Aspartylglucosaminuria;Sphingolipidoses;Krabbe Disease;Wolman's Disease;Niemann-Pick Disease Type B;Niemann-Pick Disease, Type C | Procedure: Stem Cell Transplantation;Drug: Cyclophosphamide;Drug: Campath-1H;Drug: Busulfan | Masonic Cancer Center, University of Minnesota | NULL | Terminated | N/A | 21 Years | All | 18 | Phase 2 | United States |
| 89 | NCT00786968 (ClinicalTrials.gov) | January 2008 | 17/6/2008 | Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I | An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I | Spinal Cord Compression;Mucopolysaccharidosis I;Hurler-Scheie Syndrome;Scheie Syndrome;Lysosomal Storage Disease | Drug: laronidase | Patricia I. Dickson, M.D. | The Ryan Foundation for MPS Children | Terminated | 8 Years | N/A | Both | 3 | Phase 1 | United States;Finland |
| 90 | EUCTR2006-005216-27-FI (EUCTR) | 26/03/2007 | 14/03/2007 | Selkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS I | Selkäytimeen annettu entsyymikorvaus mukopolysakkaridoosi I:n selkäytimen puristuman hoidossa. Kansainvälinen monikeskustutkimus. A study of intrathecal enzyme replacement therapy for spinal cord compression in mucopolysaccharidosis I, MIRC-001. - Intrathecal enzyme replacement in MPS I | Mucopolysaccharidosis I H/S, lysosomal storage disease with clinical manifestations such as progressive joint stiffness, growth retardation, corneal clouding, hepatosplenomegaly, cardiac and respiratory dysfunction, and in severe fore, mental retardation MedDRA version: 9.1;Level: LLT;Classification code 10056887;Term: Mucopolysaccharidosis IH/S | Trade Name: Aldurazyme Other descriptive name: LARONIDASE | HUS, Hospital for Children and Adolescents | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Finland | |||
| 91 | NCT00383448 (ClinicalTrials.gov) | September 2006 | 29/9/2006 | HSCT for High Risk Inherited Inborn Errors | Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation | Adrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Tay Sachs Disease;Sandhoffs Disease;Wolman Disease;I-Cell Disease;Sanfilippo Syndrome;GM1 Gangliosidosis | Drug: Clofarabine;Procedure: Total body Irradiation;Drug: Melphalan;Biological: Hematopoietic Stem Cell Transplantation;Drug: Alemtuzumab;Drug: mycophenylate mofetil;Device: Cyclosporine A;Drug: Hydroxyurea | Masonic Cancer Center, University of Minnesota | NULL | Completed | N/A | 70 Years | All | 38 | Phase 2 | United States |
| 92 | NCT00215527 (ClinicalTrials.gov) | November 2005 | 19/9/2005 | Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I | A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I | Mucopolysaccharidosis I;Lysosomal Storage Diseases;Spinal Cord Compression | Drug: laronidase | Patricia I. Dickson, M.D. | Ryan Foundation for MPS Children;University of California, Los Angeles;FDA Office of Orphan Products Development | Terminated | 8 Years | N/A | Both | 4 | Phase 1 | United States;Finland |
| 93 | NCT00176904 (ClinicalTrials.gov) | January 1995 | 12/9/2005 | Stem Cell Transplant for Inborn Errors of Metabolism | Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation | Adrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Gaucher's Disease;Fucosidosis;Wolman Disease;Niemann-Pick Disease;Batten Disease;GM1 Gangliosidosis;Tay Sachs Disease;Sandhoff Disease | Procedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, Antithymocyte Globulin | Masonic Cancer Center, University of Minnesota | NULL | Completed | N/A | N/A | All | 135 | Phase 2/Phase 3 | United States |
| 94 | NCT00001410 (ClinicalTrials.gov) | October 1993 | 3/11/1999 | PEG-Glucocerebrosidase for the Treatment of Gaucher Disease | A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease | Gaucher's Disease | Drug: Lysodase | National Institute of Mental Health (NIMH) | NULL | Completed | N/A | N/A | Both | 18 | Phase 1 | United States |
| 95 | EUCTR2011-002750-31-FR (EUCTR) | 12/11/2018 | 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] | 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;Russian Federation;Chile;Israel;Italy;France;Cyprus;Australia;Denmark;South Africa;Netherlands;Turkey;United Kingdom;Czech Republic;Mexico;Argentina;Brazil;Belgium;Poland;Croatia;Romania;Germany;Sweden | |||
| 96 | EUCTR2021-005200-35-FR (EUCTR) | 20/05/2022 | 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 | NA | Female: yes Male: yes | 54 | Phase 2;Phase 3 | United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Czech Republic;Mexico;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Germany;Sweden | |||
| 97 | EUCTR2019-002936-97-DE (EUCTR) | 08/01/2020 | 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 | Not Recruiting | Female: yes Male: yes | 24 | Phase 1;Phase 2 | United States;France;Spain;Germany | |||
| 98 | EUCTR2014-001411-39-FR (EUCTR) | 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.;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 | 9 | Phase 1;Phase 2 | United States;France;Spain;Netherlands;Germany;United Kingdom;Italy | |||
| 99 | EUCTR2021-005200-35-DE (EUCTR) | 27/04/2022 | 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 | NA | Female: yes Male: yes | 54 | Phase 2;Phase 3 | United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Czech Republic;Mexico;Canada;Argentina;Brazil;Belgium;Australia;Netherlands;Germany;Sweden | |||
| 100 | EUCTR2021-005200-35-NL (EUCTR) | 11/05/2022 | 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 | NA | Female: yes Male: yes | 54 | Phase 2;Phase 3 | United States;Czechia;Spain;Turkey;Colombia;United Kingdom;Italy;France;Mexico;Canada;Argentina;Belgium;Brazil;Australia;Netherlands;Germany;Sweden | |||
| 101 | EUCTR2011-000032-28-FR (EUCTR) | 11/04/2011 | 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 Deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 13.1;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 13.1;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | Not Recruiting | Female: yes Male: yes | 8 | Phase 1;Phase 2 | United States;France;Ireland;Germany;Italy;United Kingdom | |||
| 102 | EUCTR2011-002750-31-PL (EUCTR) | 03/04/2013 | 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 | Phase 3 | 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;Brazil;Belgium;Poland;Romania;Croatia;Germany;Japan;Sweden | |||
| 103 | EUCTR2019-004949-32-FR (EUCTR) | 09/03/2020 | LYS-GM101 gene therapy trial in patients with GM1 gangliosidosis | An open-label adaptive-design study of intracisternal administration of adeno-associated viral vector serotype rh.10 carrying the human ß-galactosidase cDNA for the treatment of GM1 gangliosidosis | GM1 gangliosidosis 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: LYS-GM101 Product Code: LYS-GM101 INN or Proposed INN: adeno-associated virus (AAV) serotype rh.10 expressing human betagalactosidase (AAVrh.10-CAG-ßgal) Other descriptive name: Adeno-associated virus serotype rh.10 expressing beta-galactosidase | Lysogene | NULL | NA | Female: yes Male: yes | 18 | Phase 1;Phase 2 | United States;France;United Kingdom | |||
| 104 | EUCTR2011-002880-42-FR (EUCTR) | 19/09/2011 | A research study to look at the safety, effectiveness and the long-term 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 who were previously treated with SBC-102 | An Open Label Multicenter Extension Study to Evaluate the Long-Term Efficacy and Safety of SBC 102 in Children with Lysosomal Acid Lipase Deficiency Who Previously Received Treatment with SBC-102 - SBC-102 in Children with Growth Failure Due to Lysosomal Acid Lipase Deficiency | Growth failure in children due to lysosomal acid lipase deficiency (Wolman disease). MedDRA version: 14.0;Level: SOC;Classification code 10027433;Term: Metabolism and nutrition disorders;System Organ Class: 10027433 - Metabolism and nutrition disorders MedDRA version: 14.0;Level: HLGT;Classification code 10021605;Term: Inborn errors of metabolism;Level: HLT;Classification code 10024579;Term: Lysosomal storage disorders;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 lysosomal acid lipase (rhLAL) Product Code: SBC-102 INN or Proposed INN: not available Other descriptive name: recombinant human lysosomal acid lipase (rhLAL) | Synageva Biopharma Corp. | NULL | NA | Female: yes Male: yes | 6 | Phase 2 | United States;France;Germany;United Kingdom |