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19. ライソゾーム病
［臨床試験数：784，薬物数：673（DrugBank：101），標的遺伝子数：68，標的パスウェイ数：184］

Searched query = "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"
The queries were searched in Public_title, Scientific_title, and Condition. Export date: 03/15/2021. Trials are sorted by Date_enrollment from most recent to oldest in the table.

Search in Page e.g. "Phase 3", "Not recruiting", "Japan"
77 trials found
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
1NCT04532047
(ClinicalTrials.gov)		December 1, 202019/8/2020In Utero Enzyme Replacement Therapy for Lysosomal Storage DiseasesIn 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 DiseaseDrug: Aldurazyme (laronidase)University of California, San FranciscoDuke UniversityNot yet recruiting18 Years50 YearsFemale10Phase 1United States
2EUCTR2019-002979-34-ES
(EUCTR)		18/05/202025/05/2020A 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 IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		34Phase 1;Phase 2Germany;United States;France;Spain;Australia
3NCT04273269
(ClinicalTrials.gov)		April 202021/1/2020A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 GangliosidosisAn Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human ß-Galactosidase cDNA for Treatment of GM1 GangliosidosisGM1 GangliosidosisGenetic: LYS-GM101LYSOGENENULLNot yet recruitingN/AN/AAll18Phase 1;Phase 2NULL
4EUCTR2015-003904-21-FR
(EUCTR)		23/12/201911/09/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase 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]		Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes		22Phase 1;Phase 2United States;France;Brazil;Spain;Australia;Germany;United Kingdom
5EUCTR2018-000195-15-DE
(EUCTR)		16/12/201922/10/2018An 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 AAn 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 SANULLNot RecruitingFemale: yes
Male: yes		20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
6EUCTR2019-000667-24-GB
(EUCTR)		12/11/201919/03/2019A 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 DiseaseA 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]		Sangamo Therapeutics, Inc.NULLAuthorised-recruitment may be ongoing or finished Female: no
Male: yes		30Phase 1;Phase 2United States;United Kingdom
7NCT03952637
(ClinicalTrials.gov)		August 19, 201915/5/2019A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human <=-Galactosidase in Type I and Type II GM1 GangliosidosisA Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 GangliosidosisLysosomal Diseases;Gangliosidosis;GM1Biological: AAV9-GLB1;Drug: Rituximab;Drug: Sirolimus;Drug: Methylprednisolone;Drug: Prednisone;Diagnostic Test: Audiology assessmentwith ABR;Diagnostic Test: Bone density scan (DEXA;Diagnostic Test: Electrocardiogram (EKG);Diagnostic Test: Echocardiogram;Other: Electroencephalogram (EEG) awake andextended overnight;Diagnostic Test: Laboratory tests;Procedure: Lumbar puncture;Procedure: Brain MRI/MRS/fMRI;Behavioral: Neurocognitive testing;Other: Neurology exam;Behavioral: PICC line placement;Procedure: Skeletal survey;Procedure: Skin biopsy;Procedure: Speech and modified barium swallow study;Procedure: Ophthalmology examNational Human Genome Research Institute (NHGRI)Axovant Sciences, Inc.Recruiting6 Months12 YearsAll45Phase 1;Phase 2United States
8EUCTR2014-001411-39-DE
(EUCTR)		24/06/201929/10/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		20Phase 1;Phase 2United States;France;Spain;Germany;United Kingdom
9EUCTR2018-000195-15-GB
(EUCTR)		28/05/201919/09/2018An 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 AAn 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 SANULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		20Phase 2;Phase 3Germany;United Kingdom;United States;France;Netherlands
10EUCTR2018-000504-42-ES
(EUCTR)		21/05/201909/04/2018Gene Therapy Clinical Trial for Mucopolysaccharidosis IIIA in patient with middle and advanced phases of the diseaseA 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, 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]		Abeona Therapeutics IncNULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes		12Phase 1;Phase 2United States;Spain;Australia
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
11JPRN-JMA-IIA00421
07/05/201926/04/2019Phase 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 diseaseIntervention type:DRUG. Intervention1:ADMINISTRATION, Dose form:TABLET, Route of administration:ORAL.Tottori University Hospital, Departrment of Child NeurologyNULLCompletedNo LimitNo LimitBOTH3Phase 2;Phase 3Japan
12EUCTR2018-000195-15-NL
(EUCTR)		25/03/201927/09/2018An 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 AAn 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 SANULLNot RecruitingFemale: yes
Male: yes		20Phase 2;Phase 3United States;France;Germany;Netherlands;United Kingdom
13EUCTR2014-001411-39-GB
(EUCTR)		10/01/201924/05/2019Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase 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]		Abeona Therapeutics Europe SL.NULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes		9Phase 1;Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
14EUCTR2018-000195-15-FR
(EUCTR)		27/12/201804/09/2018An 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 AAn 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]		Lysogene SANULLAuthorised-recruitment may be ongoing or finished Female: yes
Male: yes		20Phase 2;Phase 3United States;France;Netherlands;Germany;United Kingdom
15EUCTR2014-001411-39-ES
(EUCTR)		04/09/201827/06/2018Gene transfer clinical trial for Mucopolysaccharidosis IIIBPhase 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 IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		9Phase 1;Phase 2France;United States;Spain;Netherlands;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
16EUCTR2015-003904-21-ES
(EUCTR)		01/08/201615/04/2016Gene transfer clinical trial for Mucopolysaccharidosis IIIAPhase 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 IncNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		18Phase 1;Phase 2United States;Spain;Australia
17EUCTR2015-004846-25-BE
(EUCTR)		15/07/201630/03/2016Anti-oxLDL IgM antibodies as a novel therapy for metabolic lipid diseasesImmunization 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 UniversityNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		Phase 4Belgium
18EUCTR2015-000359-26-ES
(EUCTR)		29/04/201603/02/2016First 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		Phase 1;Phase 2Spain
19NCT02376751
(ClinicalTrials.gov)		August 201525/2/2015An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase DeficiencyAN EXPANDED ACCESS PROTOCOL FOR SEBELIPASE ALFA FOR PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCYLysosomal Acid Lipase DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLNo longer available8 MonthsN/ABothN/ANULL
20EUCTR2014-000533-22-FI
(EUCTR)		23/06/201505/06/2015Study 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 IncNULLNot RecruitingFemale: yes
Male: yes		10Phase 2United States;Finland;Italy;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
21EUCTR2011-004287-30-NL
(EUCTR)		29/05/201501/04/2015Study 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 IncNULLNot RecruitingFemale: yes
Male: yes		30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany
22EUCTR2014-002701-38-DK
(EUCTR)		15/05/201520/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia;Japan
23EUCTR2014-002701-38-ES
(EUCTR)		12/03/201516/01/2015A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
24EUCTR2011-002750-31-CZ
(EUCTR)		16/02/201522/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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]		Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes		55Phase 3United 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
25EUCTR2014-002701-38-BE
(EUCTR)		09/02/201504/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
26EUCTR2014-002701-38-GB
(EUCTR)		28/01/201509/12/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
27EUCTR2014-003950-15-DK
(EUCTR)		22/01/201525/11/2014Medical research trial for testing drug treatment of alpha-MannosidosisA 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/SNULLNot RecruitingFemale: yes
Male: yes		Denmark
28EUCTR2011-004287-30-GB
(EUCTR)		19/01/201511/04/2014 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]		Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes		20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
29EUCTR2014-002701-38-AT
(EUCTR)		17/12/201412/11/2014A Study Using Migalastat Hydrochloride to See the Long Term Safety and Effectiveness of the Drug in Patients with Fabry DiseaseAn 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;United Kingdom;Italy;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark;Japan
30EUCTR2014-000533-22-IT
(EUCTR)		18/09/201422/07/2014Study 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.NULLNot RecruitingFemale: yes
Male: yes		10Phase 2United States;Finland;United Kingdom;Italy
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
31EUCTR2011-004287-30-IT
(EUCTR)		18/09/201418/04/2014Study 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.NULLNot RecruitingFemale: yes
Male: yes		20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark;Netherlands;Germany;Japan
32EUCTR2011-004287-30-DE
(EUCTR)		12/08/201413/05/2014Study 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 IncNULLNot RecruitingFemale: yes
Male: yes		30Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Germany;Netherlands;Japan
33EUCTR2011-004287-30-BE
(EUCTR)		22/07/201426/05/2014Study 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.NULLNot RecruitingFemale: yes
Male: yes		20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
34EUCTR2011-004800-40-AT
(EUCTR)		08/07/201415/05/2014A 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
35EUCTR2011-004287-30-HR
(EUCTR)		07/07/201403/09/2014 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]		Alexion Pharmaceuitcals IncNULLNot Recruiting Female: yes
Male: yes		20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Croatia;Australia;Denmark;Netherlands;Germany;Japan
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
36NCT02112994
(ClinicalTrials.gov)		June 24, 201420/3/2014Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase DeficiencyA Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLCompleted8 MonthsN/AAll31Phase 2United States;Australia;Belgium;Brazil;Canada;Croatia;Denmark;Germany;Italy;Mexico;Netherlands;Russian Federation;Spain;Turkey;United Kingdom
37EUCTR2011-004287-30-DK
(EUCTR)		19/06/201403/04/2014Study 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 incNULLNot RecruitingFemale: yes
Male: yes		20Phase 2United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Poland;Brazil;Croatia;Denmark;Australia;Netherlands;Germany;Japan
38NCT02193867
(ClinicalTrials.gov)		June 6, 20147/7/2014Clinical Study In Infants With Rapidly Progressive Lysosomal Acid Lipase DeficiencyA 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 DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase AlfaAlexion PharmaceuticalsNULLTerminatedN/A8 MonthsAll10Phase 2United States;Finland;Italy;United Kingdom
39EUCTR2011-004287-30-ES
(EUCTR)		28/05/201404/04/2014Study 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.NULLNot RecruitingFemale: yes
Male: yes		20Phase 2Netherlands;Germany;Japan;United States;Spain;Turkey;Russian Federation;United Kingdom;Italy;Mexico;Canada;Belgium;Brazil;Poland;Croatia;Australia;Denmark
40EUCTR2014-000533-22-GB
(EUCTR)		28/05/201424/04/2014 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]		Alexion Pharmaceuticals IncNULLNot Recruiting Female: yes
Male: yes		10Phase 2United States;Finland;Italy;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
41EUCTR2011-004800-40-BE
(EUCTR)		07/10/201329/08/2013A 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
42EUCTR2011-002750-31-HR
(EUCTR)		17/07/201321/05/2014A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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 CorporationNULLNot RecruitingFemale: yes
Male: yes		55Phase 3Taiwan;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
43EUCTR2011-000032-28-IE
(EUCTR)		12/07/201316/05/2013A 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 fatsAn 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.NULLNot RecruitingFemale: yes
Male: yes		10Phase 2;Phase 3France;Egypt;United States;Saudi Arabia;Taiwan;Ireland;Turkey;Germany;Italy;United Kingdom
44EUCTR2011-002750-31-GR
(EUCTR)		26/06/201315/05/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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]		Synageva BioPharma CorporationNULLNot Recruiting Female: yes
Male: yes		55Phase 3Taiwan;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
45EUCTR2011-000032-28-DE
(EUCTR)		31/05/201328/06/2011A 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 fatsAn 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.NULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		10United States;France;Taiwan;Germany;United Kingdom;Italy
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
46EUCTR2011-002750-31-DE
(EUCTR)		29/05/201329/01/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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]		Alexion Pharmaceuticals, Inc.NULLNot Recruiting Female: yes
Male: yes		55Phase 3United 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
47EUCTR2011-002750-31-ES
(EUCTR)		06/05/201306/03/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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 CorporationNULLNot RecruitingFemale: yes
Male: yes		55Phase 3Taiwan;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
48EUCTR2011-002750-31-IT
(EUCTR)		15/04/201325/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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 CorporationNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		55Taiwan;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
49EUCTR2011-002750-31-GB
(EUCTR)		18/03/201311/02/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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.NULLNot RecruitingFemale: yes
Male: yes		55Phase 3United 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
50NCT01757184
(ClinicalTrials.gov)		January 22, 201317/12/2012Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase DeficiencyA Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase DeficiencyLysosomal Acid Lipase DeficiencyDrug: Sebelipase Alfa;Drug: PlaceboAlexion PharmaceuticalsNULLCompleted4 YearsN/AAll66Phase 3United States;Argentina;Australia;Croatia;Czechia;France;Germany;Italy;Japan;Mexico;Poland;Russian Federation;Spain;Turkey;United Kingdom;Brazil;Canada;Czech Republic;Greece;Israel
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
51EUCTR2011-004800-40-DK
(EUCTR)		27/08/201213/07/2012A 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.NULLNot RecruitingFemale: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Denmark;Australia
52EUCTR2011-000032-28-IT
(EUCTR)		07/08/201203/09/2012A 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 fatsAN 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.NULLNot RecruitingFemale: yes
Male: yes		10United States;Taiwan;Ireland;Germany;United Kingdom;Italy
53NCT01626092
(ClinicalTrials.gov)		July 11, 201220/6/2012Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal DisordersTreatment 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 DisorderDrug: Campath-1H;Drug: Clofarabine;Drug: Melphalan;Radiation: Total Body Irradiation with Marrow Boosting;Biological: Hematopoietic stem cell transplantation;Drug: Cyclosporine A;Drug: Mycophenolate mofetilMasonic Cancer Center, University of MinnesotaNULLCompletedN/A55 YearsAll3N/AUnited States
54EUCTR2011-004800-40-IT
(EUCTR)		15/05/201212/03/2012A 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.NULLNot RecruitingFemale: yes
Male: yes		100Egypt;United States;Belgium;Spain;Brazil;Turkey;Austria;Denmark;Australia;United Kingdom;Italy
55EUCTR2011-004800-40-ES
(EUCTR)		13/02/201211/01/2012A 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 LimitedNULLNot RecruitingFemale: yes
Male: yes		100Phase 3France;Egypt;United States;Belgium;Brazil;Spain;Turkey;Austria;Denmark;Australia;Italy;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
56EUCTR2011-004800-40-GB
(EUCTR)		25/01/201225/10/2011A 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]		Amicus Therapeutics, Inc.NULLNot Recruiting Female: yes
Male: yes		100Phase 3United States;Spain;Turkey;Austria;Italy;United Kingdom;Egypt;France;Canada;Argentina;Belgium;Brazil;Australia;Denmark
57NCT01488097
(ClinicalTrials.gov)		December 12, 201126/11/2011Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase DeficiencyAn 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-CL01Cholesterol Ester Storage Disease (CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: sebelipase alfaAlexion PharmaceuticalsNULLCompleted18 YearsN/AAll8Phase 2United States;Canada;Czechia;France;United Kingdom;Czech Republic
58EUCTR2011-002880-42-GB
(EUCTR)		05/12/201112/09/2011A 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-102An 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.NULLNot RecruitingFemale: yes
Male: yes		10United States;France;Germany;United Kingdom
59EUCTR2011-001513-13-CZ
(EUCTR)		10/11/201112/09/2011A 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.NULLNot RecruitingFemale: yes
Male: yes		9Phase 2United States;France;Czech Republic;United Kingdom
60NCT01473875
(ClinicalTrials.gov)		November 201110/11/2011Children With Lysosomal Acid Lipase Deficiency Who Previously Received Treatment With SBC-102An 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-102Lysosomal Acid Lipase Deficiency;Wolman DiseaseDrug: SBC-102Alexion PharmaceuticalsNULLTerminatedN/AN/AAll10Phase 2;Phase 3France;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
61EUCTR2011-001513-13-GB
(EUCTR)		24/10/201131/08/2011A 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]		Synageva Biopharma Corp.NULLNot Recruiting Female: yes
Male: yes		9Phase 2France;United States;Czech Republic;United Kingdom
62EUCTR2010-024068-16-CZ
(EUCTR)		26/07/201126/07/2011A 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.NULLNot RecruitingFemale: yes
Male: yes		9United Kingdom;Czech Republic;United States
63NCT01371825
(ClinicalTrials.gov)		May 4, 20119/6/2011Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase DeficiencyAn 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 DeficiencyLysosomal Acid Lipase Deficiency;Wolman DiseaseDrug: Sebelipase alfa (SBC-102)Alexion PharmaceuticalsNULLCompletedN/A24 MonthsAll9Phase 2;Phase 3United States;Egypt;France;Ireland;United Kingdom;Germany;India;Italy;Saudi Arabia;Taiwan;Turkey
64NCT01307098
(ClinicalTrials.gov)		April 25, 20111/3/2011Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase DeficiencyAn 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 DeficiencyCholesterol Ester Storage Disease(CESD);Lysosomal Acid Lipase Deficiency;LAL-DeficiencyDrug: Sebelipase alfa 0.35 mg/kg;Drug: Sebelipase alfa 1 mg/kg;Drug: Sebelipase alfa 3 mg/kgAlexion PharmaceuticalsNULLCompleted18 Years65 YearsAll9Phase 1;Phase 2United States;Czechia;France;United Kingdom;Czech Republic
65EUCTR2011-000032-28-GB
(EUCTR)		18/04/201117/01/2011A 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 fatsAn 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.NULLNot RecruitingFemale: yes
Male: yes		10Phase 1;Phase 2;Phase 3France;United States;Taiwan;Ireland;Germany;Italy;United Kingdom
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
66EUCTR2010-024068-16-GB
(EUCTR)		08/03/201110/01/2011SBC-102 in patients with liver dysfunction due to LAL deficiencyAn 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.NULLNot RecruitingFemale: yes
Male: yes		9Czech Republic;United Kingdom
67NCT01136304
(ClinicalTrials.gov)		April 201031/5/2010Validating 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 DiseaseDrug: ImigluceraseUniversity Research Foundation for Lysosomal Storage Diseases, Inc.University of PittsburghCompleted18 YearsN/ABoth173N/AUnited States
68NCT00668564
(ClinicalTrials.gov)		March 200825/4/2008Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTreatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell TransplantationHurler'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 CProcedure: Stem Cell Transplantation;Drug: Cyclophosphamide;Drug: Campath-1H;Drug: BusulfanMasonic Cancer Center, University of MinnesotaNULLTerminatedN/A21 YearsAll18Phase 2United States
69EUCTR2006-005216-27-FI
(EUCTR)		26/03/200714/03/2007Selkäytimeen 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 ISelkäytimeen 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 AdolescentsNULLAuthorised-recruitment may be ongoing or finishedFemale: yes
Male: yes		10Finland
70NCT00383448
(ClinicalTrials.gov)		September 200629/9/2006HSCT for High Risk Inherited Inborn ErrorsTreatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell TransplantationAdrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Tay Sachs Disease;Sandhoffs Disease;Wolman Disease;I-Cell Disease;Sanfilippo Syndrome;GM1 GangliosidosisDrug: Clofarabine;Procedure: Total body Irradiation;Drug: Melphalan;Biological: Hematopoietic Stem Cell Transplantation;Drug: Alemtuzumab;Drug: mycophenylate mofetil;Device: Cyclosporine A;Drug: HydroxyureaMasonic Cancer Center, University of MinnesotaNULLCompletedN/A70 YearsAll38Phase 2United States
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
71NCT00176904
(ClinicalTrials.gov)		January 199512/9/2005Stem Cell Transplant for Inborn Errors of MetabolismTreatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow TransplantationAdrenoleukodystrophy;Metachromatic Leukodystrophy;Globoid Cell Leukodystrophy;Gaucher's Disease;Fucosidosis;Wolman Disease;Niemann-Pick Disease;Batten Disease;GM1 Gangliosidosis;Tay Sachs Disease;Sandhoff DiseaseProcedure: Stem Cell Transplant;Drug: Busulfan, Cyclophosphamide, Antithymocyte GlobulinMasonic Cancer Center, University of MinnesotaNULLCompletedN/AN/AAll135Phase 2;Phase 3United States
72NCT00001410
(ClinicalTrials.gov)		October 19933/11/1999PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseA Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher DiseaseGaucher's DiseaseDrug: LysodaseNational Institute of Mental Health (NIMH)NULLCompletedN/AN/ABoth18Phase 1United States
73EUCTR2011-002750-31-PL
(EUCTR)		03/04/2013A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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.NULLNot RecruitingFemale: yes
Male: yes		55Phase 3United 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
74EUCTR2011-000032-28-FR
(EUCTR)		11/04/2011A 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 fatsAn 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.NULLNot RecruitingFemale: yes
Male: yes		8Phase 1;Phase 2United States;France;Ireland;Germany;Italy;United Kingdom
75EUCTR2019-002936-97-DE
(EUCTR)		08/01/2020A 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.NULLNAFemale: yes
Male: yes		24Phase 1;Phase 2United States;France;Spain;Germany
No.TrialIDDate_
enrollment		Date_
registration		Public_titleScientific_titleConditionInterventionPrimary_
sponsor		Secondary_
sponsor		Recruitment_
Status		Inclusion_
agemin		Inclusion_
agemax		Inclusion_
gender		Target_
size		PhaseCountries
76EUCTR2011-002750-31-FR
(EUCTR)		12/11/2018A study of SBC-102 (enzyme replacement therapy) in patients with lysosomal acid lipase deficiencyA 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 CorporationNULLNot RecruitingFemale: yes
Male: yes		55Phase 3Taiwan;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
77EUCTR2011-002880-42-FR
(EUCTR)		19/09/2011A 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-102An 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.NULLNAFemale: yes
Male: yes		6Phase 2United States;France;Germany;United Kingdom

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