Search clinical trials for: Lysosomal Storage Disorders

Total 145923 results

Genzyme, a Sanofi Company

Completed

Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Completed Phase 2 or Phase 3 Studies (EXOSKEL)

Gaucher Disease

Canada, Russian Federation, Tunisia
CENTOGENE GmbH Rostock

Terminated

European Alpha-Mannosidosis Participant (EUMAP)

Deafness | Immunodeficiency | Mental Retardation | Gingival Hypertrophy | Skeletal Abnormalities | Facial Dysmorphism

Germany, Switzerland
University of Utah
Genzyme, a Sanofi Company

Completed

Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease

Fabry Disease

United States
Actelion

Completed

Safety and Efficacy of Miglustat in Chinese NPC Patients

Niemann-Pick Disease, Type C

China
Takeda

Completed

A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil

Mucopolysaccharidosis (MPS)

Brazil
REGENXBIO Inc.

Completed

Mucopolysaccharidosis Type II Natural History

Mucopolysaccharidosis II

Brazil, United States, United Kingdom
Sanofi

Completed

A National Study in Patients With Unexplained Splenomegaly (SMS)

Gaucher Disease | Splenomegaly

France
Genzyme, a Sanofi Company

Completed

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency (ASCEND-Peds)

Sphingomyelin Lipidosis

Brazil, France, Italy, United States, Germany, United Kingdom
Shire

Completed

Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease

Gaucher Disease

United States, Spain, United Kingdom, Israel
Institut National de la Santé Et de la Recherche...
Assistance Publique - Hôpitaux de Paris; European Leukodystrophy Association

Active, not recruiting

Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy (TG-MLD)

Metachromatic Leukodystrophy

France
Amicus Therapeutics

Completed

Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)

Fabry Disease

United Kingdom, United States
Chiesi SA/NV

Enrolling by invitation

Observational Study to Assess the Quality of Life in Nephropathic Cystinosis Patients (PROREAL)

Nephropathic Cystinosis

Belgium
Shire

Completed

Fabry Outcome Survey (FOS) (FOS)

Fabry Disease

United States
Idorsia Pharmaceuticals Ltd.

Completed

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 (RETRIEVE)

GM2 Gangliosidosis | GM1 Gangliosidosis | Tay-Sachs Disease | Sandhoff Disease | Gaucher Disease, Type 2 | AB Variant Gangliosidosis GM2

United States, Spain, Germany, Italy, Belgium, Brazil, France, Portugal, Switzerland, United Kingdom
Manchester University NHS Foundation Trust
Northern Care Alliance NHS Foundation Trust

Completed

Characterisation of Heart Involvement in Fabry Disease With T1 Mapping (T1)

Fabry Disease

United Kingdom
Massachusetts General Hospital

Completed

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Fabry Disease | Mitochondrial Disease | Small Fiber Neuropathy | Ehlers Danlos Syndrome

United States
Children's Hospital of Fudan University
First Affiliated Hospital, Sun Yat-Sen University; Wuhan Union Hospital, China and other collaborators

Withdrawn

Fabry Aim Children Early (ACE) Project

Fabry Disease

China
Hasan Kalyoncu University

Completed

The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis

Mucopolysaccharidosis

Turkey
REGENXBIO Inc.

Enrolling by invitation

Long-term Follow-Up for RGX-121

Mucopolysaccharidosis II

United States
Cyclo Therapeutics, Inc.

Completed

Safety and Efficacy of Intravenous Trappsol Cyclo (HPBCD) in Niemann-Pick Type C Patients

Niemann-Pick Disease, Type C1

Israel, Sweden, United Kingdom
Shire

Completed

Replagal Enzyme Replacement Therapy for Children With Fabry Disease

Fabry Disease

Canada, United States
Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company

Completed

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease

Niemann-Pick Disease, Type C1

United States
Shire

Completed

This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.

Fabry Disease

Canada
Shire

Completed

A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease

Gaucher Disease, Type 1

Israel, Paraguay, Argentina, Russian Federation, Tunisia
Shire

Completed

A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®

Hunter Syndrome

United States, United Kingdom
Shire

Completed

Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease

Gaucher Disease

Japan
Shire

Completed

Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)

Metachromatic Leukodystrophy (MLD)

Denmark
CEN Biotech
Takeda; BioClinica, Inc.

Completed

Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa) (EIROS)

MRI | Gaucher Disease, Type 1

France
Shire

Completed

Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)

Gaucher Disease

Israel, Romania, Serbia
Cyclo Therapeutics, Inc.

Active, not recruiting

Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C

Niemann-Pick Disease, Type C1

United States
Shire

Completed

Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD) (IDEAMLD)

Metachromatic Leukodystrophy (MLD)

Australia, Denmark, Japan, France, Germany
Shire

Completed

Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)

Late Infantile Metachromatic Leukodystrophy

Denmark
Shire

Completed

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

Hunter Syndrome

United States, United Kingdom
Shire
Quintiles, Inc.

Completed

Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease

Gaucher Disease

Japan
Shire

Completed

Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease

Gaucher Disease, Type 3

Egypt, India, Tunisia
Shire

Completed

Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment (AIM-IT)

Hunter Syndrome

Spain, United States, Canada, United Kingdom, France, Australia, Mexico
Shire

Completed

Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase

Hunter Syndrome | Mucopolysaccharidosis II (MPS II)

United States, France, United Kingdom, Germany, Sweden, Spain, Brazil, Canada, Italy, Romania
Shire

Completed

An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease

Gaucher Disease, Type 1

United States, Israel, Argentina, India, Korea, Republic of, Paraguay, Poland, Russian Federation, Spain, Tunisia, United Kingdom
Shire

Completed

Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II)

Mucopolysaccharidosis II

United States, United Kingdom, Brazil, Germany
Shire

Completed

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase

Gaucher Disease

United States, Israel, United Kingdom, Poland, Spain
Shire

Completed

Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease

Fabry Disease

United States, United Kingdom, Australia, Czechia, Finland, Paraguay, Poland, Slovenia
Shire

Completed

Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

Hunter Syndrome

United States, United Kingdom
Shire

Completed

Safety Study of Replagal® Therapy in Children With Fabry Disease

Fabry Disease

United States
Shire

Terminated

Open-Label Extension Study of Recombinant Human Arylsulfatase A (HGT-1111) in Late Infantile MLD

Late Infantile Metachromatic Leukodystrophy

Denmark
Shire

Completed

A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease

Fabry Disease

Canada
Shire

Completed

Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease

Gaucher Disease, Type 1

Spain, Israel, United States, India, Paraguay, United Kingdom, Russian Federation, Tunisia, Argentina
Shire

Completed

An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients

Hunter Syndrome

United Kingdom, United States, Brazil
Shire

Completed

Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease

Fabry Disease

United States, Slovenia, Australia, Finland, Poland, Czechia, United Kingdom
Shire
Covance; PRA Health Sciences; PharmaNet

Completed

Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy

Mucopolysaccharidosis II | Hunter Syndrome | MPS II

Brazil, Poland, Taiwan
Melbourne Health
Sanofi

Withdrawn

Complement Activation in the Lysosomal Storage Disorders (CATALYST)

Lysosomal Storage Diseases | Fabry Disease | Niemann-Pick Disease, Type C | Gaucher Disease

Australia

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