Clinical Trials on Lysosomal Storage Diseases, Nervous System

Total 190752 results

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

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Withdrawn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
University of Florida
Amicus Therapeutics

Completed

Diet and Exercise in Pompe Disease

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

United States
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
Taipei Veterans General Hospital, Taiwan

Not yet recruiting

Higher Dose of Alglucosidase Alpha for Pompe Disease

Glycogen Storage Disease Type II
Duke University

Completed

Pompe Telemedicine Developmental Study

Pompe Disease | Glycogen Storage Disease II

United States
National Human Genome Research Institute (NHGRI)

Enrolling by invitation

Genetic Studies of Lysosomal Storage Disorders

Parkinson Disease | Gaucher Disease | Lysosomal Storage Disorders

United States
Centre Hospitalier de Cayenne

Completed

Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth (DEPIPOMP1)

Pompe's Disease
Amicus Therapeutics

Recruiting

A Global Prospective Observational Registry of Patients With Pompe Disease

Pompe Disease

United States
Duke University
Sanofi

Recruiting

Cognitive and Neurological Pathologies in Pompe Disease (CNS)

Pompe Disease

United States
Duke University
Genzyme, a Sanofi Company

Recruiting

Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease

Pompe Disease

United States
Genzyme, a Sanofi Company

Completed

Pompe Lactation Sub-Registry

Glycogen Storage Disease | Pompe Disease

United States
Valerion Therapeutics, LLC

Terminated

VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease

Pompe Disease

United States, United Kingdom
University of Florida
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease

Pompe Disease

United States
BioMarin Pharmaceutical

Completed

Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pompe Disease

Pompe Disease

United States, United Kingdom, France, Australia, Germany
BioMarin Pharmaceutical

Terminated

Extension Study for Patients Who Have Participated in a BMN 701 Study

Pompe Disease

United States, United Kingdom, Australia, France, Germany, New Zealand
University of Florida

Completed

Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies

Pompe Disease

United States
National Taiwan University Hospital

Unknown

Immune Modulation Therapy for Pompe Disease

Pompe Disease

Taiwan
Genzyme, a Sanofi Company

Terminated

A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease

Pompe Disease

United States
National Taiwan University Hospital

Unknown

CPAP for Infantile Pompe Disease

Pompe Disease

Taiwan
Genzyme, a Sanofi Company

Completed

An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease

Glycogen Storage Disease Type II | Pompe Disease

United States
Genzyme, a Sanofi Company

Completed

A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease

Glycogen Storage Disease Type II

United States, Taiwan, Israel, United Kingdom, France
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

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

Active, not recruiting

Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen (APOLLO-LOPD)

Pompe's Disease

China
Centre Hospitalier de Cayenne

Completed

Prevalence of Heterozygote Mothers for Pompe's Disease Among Mothers Having Delivered in French Guiana (DEPIPOMP2)

Pompe's Disease
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
Sanofi

Recruiting

Avalglucosidase Alfa Pregnancy Study

Pregnancy | Pompe Disease

United States
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
Fundació Institut de Recerca de l'Hospital de la...
Genzyme, a Sanofi Company

Unknown

A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI (POMPE 2013)

Pompe Disease

Spain
National Taiwan University Hospital

Completed

Newborn Screening Assay of Pompe's Disease

Pompe Disease

Taiwan
Amicus Therapeutics

Completed

A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease

Glycogen Storage Disease Type II | Pompe Disease

United States
Serhat Gumrukcu, MD PhD
Frida Therapeutics LLC

Recruiting

Clinical Specimen Collection From Pompe Disease Patients

Pompe Disease

United States

Clinical Trials on Lysosomal Storage Diseases, Nervous System

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