Clinical Trials on Lysosomal Storage Disorder

Total 150060 results

National Human Genome Research Institute (NHGRI)

Enrolling by invitation

Genetic Studies of Lysosomal Storage Disorders

Parkinson Disease | Gaucher Disease | Lysosomal Storage Disorders

United States
Aldagen

Terminated

ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases (UCBT-002)

Mucopolysaccharidosis | Inborn Errors of Metabolism | Lysosomal Storage Disorders | Inherited Metabolic Diseases | Peroxisomal Storage Diseases

United States
National Institute of Neurological Disorders and...

Completed

The Classification and Cause of Leukodystrophies of Unknown Cause

Lysosomal Storage Disease

United States, France, Israel, Netherlands
Hospices Civils de Lyon

Unknown

Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients (LALTH-2)

Liver Post-transplant Patients

France
Alexion Pharmaceuticals

Completed

An Observational Study of Patients With Lysosomal Acid Lipase Deficiency/Cholesteryl Ester Storage Disease Phenotype

Lysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease(CESD)

United States, United Kingdom, France, Canada, Czech Republic, Italy, Poland, Switzerland
Hospices Civils de Lyon

Unknown

Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. (LALTH-1)

Patients Waiting for a Liver Transplant.

France
Eunice Kennedy Shriver National Institute of Child...

Recruiting

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

Lysosomal Storage Disease | Cholesterol Metabolism

United States
Masonic Cancer Center, University of Minnesota

Completed

Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders

Lysosomal Storage Disease | Peroxisomal Disorder

United States
O & O Alpan LLC

Unknown

Molecular and Cellular Mechanisms of Lysosomal Storage Diseases

Lysosomal Storage Disorders

United States
Alexion Pharmaceuticals

Completed

Safety, Tolerability and Pharmacokinetics of SBC-102 (Sebelipase Alfa) in Adult Participants With Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency | Cholesterol Ester Storage Disease(CESD) | LAL-Deficiency

France, United States, United Kingdom, Czechia
Children's Healthcare of Atlanta

Terminated

3D Echocardiography Managing Infantile Pompe's Disease

Congenital Disorders
Alexion Pharmaceuticals

Terminated

A Study to Identify and Characterize LAL-D Patients in High-risk Populations

Lysosomal Acid Lipase Deficiency

United States
Alexion Pharmaceuticals

Completed

Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 (Sebelipase Alfa) in Adult Subjects With Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency | LAL-Deficiency | Cholesterol Ester Storage Disease (CESD)

France, United Kingdom, United States, Canada, Czechia
Alexion Pharmaceuticals

Completed

Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency (ARISE)

Lysosomal Acid Lipase Deficiency

France, Poland, United Kingdom, Spain, Mexico, Turkey, Japan, Australia, Russian Federation, United States, Germany, Italy, Czechia, Argentina, Croatia
Massachusetts General Hospital
Alexion Pharmaceuticals

Unknown

Identification of Undiagnosed Lysosomal Acid Lipase Deficiency

Cholesterol Ester Storage Disease | Lysosomal Acid Lipase Deficiency

United States
Alexion Pharmaceuticals

Completed

Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency

Spain, Germany, Italy, United States, Croatia, Canada, Russian Federation, Denmark, United Kingdom, Belgium, Mexico, Australia, Netherlands, Brazil, Turkey
Alexion Pharmaceuticals

Terminated

Screening for Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency

United States
Alexion Pharmaceuticals

No longer available

An Expanded Access Protocol for Sebelipase Alfa for Patients With Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency
Orchard Therapeutics
Ospedale San Raffaele

Active, not recruiting

A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)

Lysosomal Storage Disease | Metachromatic Leukodystrophy

Italy
Orchard Therapeutics
Ospedale San Raffaele

Active, not recruiting

Gene Therapy for Metachromatic Leukodystrophy (MLD)

Lysosomal Storage Disease | Metachromatic Leukodystrophy

Italy
University of Florida
Amicus Therapeutics

Completed

Diet and Exercise in Pompe Disease

Lysosomal Storage Diseases | Glycogen Storage Disease Type II | Pompe Disease

United States
University of Lausanne
University of Modena and Reggio Emilia

Completed

Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency

N-Acetylneuraminic Acid Storage Disease

Switzerland, Italy
Sanofi

Recruiting

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa (Baby-COMET)

Glycogen Storage Disease Type II

Belgium, United States, China, Germany, Italy, Netherlands, Spain, Taiwan, United Kingdom
Taipei Veterans General Hospital, Taiwan

Unknown

Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT

Glycogen Storage Disease Type II

Taiwan
Sanofi

Recruiting

A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

Glycogen Storage Disease Type II

Belgium, United States, Italy, Spain, Taiwan, United Kingdom, Netherlands, France, Germany
Genzyme, a Sanofi Company

Active, not recruiting

Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

Glycogen Storage Disease Type II

France
Genzyme, a Sanofi Company

Completed

Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment (APOLLO-IOPD)

Glycogen Storage Disease Type II

China
Duke University
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Completed

Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)

Glycogen Storage Disease Type II

United States
Columbia University

Withdrawn

High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease

Glycogen Storage Disease Type II

United States
Duke University
Genzyme, a Sanofi Company

Recruiting

High Dose Inspiratory Muscle Training in LOPD

Late-Onset Pompe Disease | Lysosomal Disease

United States
Taipei Veterans General Hospital, Taiwan

Not yet recruiting

Higher Dose of Alglucosidase Alpha for Pompe Disease

Glycogen Storage Disease Type II
Fondazione SISA (Societa Italiana per lo Studio...

Recruiting

Lipa Gene Mutation in PED-LIPIGEN (Pediatric FH Subjects)

Lysosomal Acid Lipase Deficiency

Italy
Amicus Therapeutics

Recruiting

A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18 (ROSSELLA)

Glycogen Storage Disease Type II Infantile Onset

United States, Taiwan, France, Germany, Italy, United Kingdom
Alexion

Completed

A Retrospective Natural History Study of Patients With Lysosomal Acid Lipase Deficiency/Wolman Phenotype

Wolman Disease | Lysosomal Acid Lipase Deficiency

United States, Canada, United Kingdom, Italy, France
Duke University

Completed

Pompe Telemedicine Developmental Study

Pompe Disease | Glycogen Storage Disease II

United States
University Children's Hospital, Zurich
Sanofi

Completed

Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease (Pompe_HrQol)

Pompe Disease

Switzerland
Sanofi

Recruiting

Avalglucosidase Alfa Pregnancy Study

Pregnancy | Pompe Disease

United States
Centre for Analytical Biochemistry and Biomedical...
University of Giessen

Recruiting

ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity

Pompe-Disease

Germany
National Taiwan University Hospital

Recruiting

High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics

Pompe Disease

Taiwan
National Taiwan University Hospital

Recruiting

A Long-term Study for the Outcome of Pompe Disease

Pompe Disease

Taiwan
Amicus Therapeutics

Active, not recruiting

First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221

Pompe Disease

United States, Netherlands, United Kingdom, Australia, Germany, New Zealand
University of Florida
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Completed

Response to Diaphragmatic Pacing in Subjects With Pompe Disease

Pompe Disease

United States
Asklepios Biopharmaceutical, Inc.

Active, not recruiting

AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease

Pompe Disease

United States
University of Florida
Lacerta Therapeutics

Completed

Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease (AAV9-GAA_IM)

Pompe Disease

United States
University of Florida
BioMarin Pharmaceutical

Completed

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease (DRMF)

Pompe Disease

United States
LMU Klinikum
Genzyme, a Sanofi Company

Completed

Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study) (STIG)

Pompe Disease

Germany, Taiwan, Italy
Amicus Therapeutics

Completed

Drug-drug Interaction Study

Pompe Disease

France, United States, Canada, United Kingdom
National Taiwan University Hospital

Completed

Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease

Pompe Disease

Taiwan
National Taiwan University Hospital

Unknown

Muscle Response to Enzyme Replacement Therapy in Pompe Disease

Pompe Disease

Taiwan
Genzyme, a Sanofi Company

Completed

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

Glycogen Storage Disease Type II

United States, France, Germany, Israel, Italy, Netherlands, Taiwan

Clinical Trials on Lysosomal Storage Disorder

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