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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Suspended Phase 1Phase 2 Interventional

Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease

NCT04771416
View directory record Official record
Conditions
Leukodystrophy, Globoid Cell
Interventions
PBKR03
Biological
Lead sponsor
Gemma Biotherapeutics
Industry
Eligibility
1 Month to 9 Months
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2030
U.S. locations
4
States / cities
Chicago, Illinois • New York, New York • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Jun 29, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 2 Interventional

Safety and Efficacy of EPI-743 in Patients With Friedreich's Ataxia

NCT01728064
View directory record Official record
Conditions
Friedreich's Ataxia
Interventions
Placebo, EPI-743 400 mg, EPI-743 200 mg
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
18 Years to 45 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
3
States / cities
Los Angeles, California • Tampa, Florida • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 30, 2020 · Synced Jul 21, 2026, 9:26 PM EDT
Completed No phase listed Observational

PheCheck Feasibility Study

NCT05998109
View directory record Official record
Conditions
Phenylketonurias
Interventions
PheCheck™, HPLC Amino Acid Analyzer, Dried Blood Spot Cards
Device · Diagnostic Test
Lead sponsor
Lumos Diagnostics
Industry
Eligibility
10 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 14, 2025 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 1Phase 2 Interventional Results available

FRDA Investigator Initiated Study (IIS) With Elamipretide

NCT05168774
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Elamipretide
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
16 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 11, 2025 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Not applicable Interventional

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

NCT02801539
View directory record Official record
Conditions
Glycogen Storage Disease Type II
Interventions
RMT therapy using modified RMT device, Sham-RMT therapy using modified RMT device
Device
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 29, 2019 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 2Phase 3 Interventional Results available

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

NCT00478647
View directory record Official record
Conditions
Gaucher Disease
Interventions
GA-GCB (velaglucerase alfa)
Biological
Lead sponsor
Shire
Industry
Eligibility
2 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
11
States / cities
Los Angeles, California • Oakland, California • Decatur, Georgia + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 9, 2021 · Synced Jul 21, 2026, 9:26 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic and Family Studies of Inherited Muscle Diseases

NCT00001331
View directory record Official record
Conditions
Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis, Polymyositis
Interventions
Not listed
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
Not listed
Healthy volunteers
Accepts healthy volunteers
Timeline
1993 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Jul 21, 2026, 9:26 PM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)

NCT05764239
View directory record Official record
Conditions
Phenylketonuria
Interventions
SYNB1934v1, Placebo
Drug
Lead sponsor
Synlogic
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
14
States / cities
Culver City, California • Orange, California • Palo Alto, California + 11 more
Source: ClinicalTrials.gov public record
Updated Jun 19, 2024 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 3 Interventional Results available

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

NCT00553631
View directory record Official record
Conditions
Gaucher Disease, Type 1
Interventions
velaglucerase alfa, imiglucerase
Biological
Lead sponsor
Shire
Industry
Eligibility
2 Years and older
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Jul 21, 2026, 9:26 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia

NCT01776164
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
10 Years and older
Enrollment
85 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2022
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 8, 2023 · Synced Jul 21, 2026, 9:26 PM EDT
Not listed Phase 2 Interventional

Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease

NCT00004293
View directory record Official record
Conditions
Gaucher's Disease
Interventions
glucocerebrosidase
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 65 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 21, 2026, 9:26 PM EDT
Recruiting Not applicable Interventional

Neurologic Stem Cell Treatment Study

NCT02795052
View directory record Official record
Conditions
Neurologic Disorders, Nervous System Diseases, Neurodegenerative Diseases, Neurological Disorders, Stroke, Traumatic Brain Injury, Cadasil, Chronic Traumatic Encephalopathy, Cerebral Infarction, Cerebral Ischemia, Cerebral Stroke, Cerebral Hemorrhage, Parkinson, Multi-System Degeneration, MSA - Multiple System Atrophy, Progressive Supranuclear Palsy, ALS, Amyotrophic Lateral Sclerosis, Neuropathy, Diabetic Neuropathies, Alzheimer Disease, Dementia, Frontotemporal Dementia, Lewy Body Disease, Cognitive Impairment, Lewy Body Variant of Alzheimer Disease
Interventions
Intravenous and Intranasal BMSC
Procedure
Lead sponsor
MD Stem Cells
Industry
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2028
U.S. locations
2
States / cities
Westport, Connecticut • Coral Springs, Florida
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 1 Interventional

Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)

NCT02939547
View directory record Official record
Conditions
Niemann-Pick Disease, Type C1
Interventions
Hydroxypropyl-beta-cyclodextrin
Drug
Lead sponsor
Cyclo Therapeutics, Inc.
Industry
Eligibility
18 Years and older
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2020
U.S. locations
2
States / cities
Oakland, California • Morristown, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 20, 2021 · Synced Jul 21, 2026, 9:26 PM EDT
Completed No phase listed Observational

Registry of Fabry Disease - A Multicenter Observational Study

NCT00055016
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2008
U.S. locations
2
States / cities
Bethesda, Maryland • Cambridge, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

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

NCT03678324
View directory record Official record
Conditions
Fabry Disease
Interventions
Functional MRI and fast bound-pool fraction imaging
Other
Lead sponsor
University of Utah
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2022
U.S. locations
1
States / cities
Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated May 25, 2022 · Synced Jul 21, 2026, 9:26 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease

NCT04519749
View directory record Official record
Conditions
Fabry Disease
Interventions
4D-310
Biological
Lead sponsor
4D Molecular Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2030
U.S. locations
4
States / cities
La Jolla, California • Atlanta, Georgia • Pittsburgh, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated Apr 7, 2024 · Synced Jul 21, 2026, 9:26 PM EDT
Recruiting No phase listed Observational

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

NCT06305234
View directory record Official record
Conditions
Phenylketonuria (PKU)
Interventions
Pegvaliase
Drug
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2033
U.S. locations
11
States / cities
Aurora, Colorado • Atlanta, Georgia • Chicago, Illinois + 8 more
Source: ClinicalTrials.gov public record
Updated Mar 23, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Recruiting Phase 1 Interventional

Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia

NCT05302271
View directory record Official record
Conditions
Friedreich Ataxia, Cardiomyopathies, Cardiac Hypertrophy, Myocardial Fibrosis
Interventions
AAVrh.10hFXN, serotype rh.10 adeno-associated virus (AAV) gene transfer vector expressing the cDNA coding for human FXN, Prednisone
Biological · Drug
Lead sponsor
Weill Medical College of Cornell University
Other
Eligibility
12 Years to 50 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Early Phase 1 Interventional

Rosuvastatin (Crestor) in Friedreich Ataxia

NCT02705547
View directory record Official record
Conditions
Friedreich Ataxia
Interventions
Rosuvastatin
Drug
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
18 Years to 65 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Mar 24, 2021 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Not applicable Interventional

Pompe Disease QMUS and EIM

NCT02742298
View directory record Official record
Conditions
Pompe Disease
Interventions
Muscle ultrasound, Electrical Impedance Myography
Device · Other
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2020
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Sep 24, 2020 · Synced Jul 21, 2026, 9:26 PM EDT
Active, not recruiting Phase 3 Interventional

Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3

NCT05222906
View directory record Official record
Conditions
Gaucher's Disease Type III
Interventions
Venglustat, imiglucerase
Drug
Lead sponsor
Sanofi
Industry
Eligibility
12 Years and older
Enrollment
43 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
4
States / cities
New Haven, Connecticut • Iowa City, Iowa • Dallas, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Jul 12, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Study Investigating the Pharmacokinetic Profiles of Four Extended Release Paracetamol Formulations

NCT01568749
View directory record Official record
Conditions
Analgesia
Interventions
Paracetamol, Paracetamol formulation 1, Paracetamol Formulation 2, Paracetamol formulation 3, Paracetamol formulation 4
Drug
Lead sponsor
GlaxoSmithKline
Industry
Eligibility
18 Years to 50 Years
Enrollment
14 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2009
U.S. locations
1
States / cities
Phoenix, Arizona
Source: ClinicalTrials.gov public record
Updated Nov 23, 2014 · Synced Jul 21, 2026, 9:26 PM EDT
Not yet recruiting Not applicable Interventional

iBCI Optimization for Veterans With Paralysis

NCT05470478
View directory record Official record
Conditions
Spinal Cord Injury, Amyotrophic Lateral Sclerosis, Brain Stem Infarctions, Locked-in Syndrome, Muscular Dystrophy
Interventions
Mobile neural decoding platform (mobile iBCI)
Device
Lead sponsor
VA Office of Research and Development
Federal
Eligibility
18 Years to 80 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Providence, Rhode Island
Source: ClinicalTrials.gov public record
Updated Feb 22, 2026 · Synced Jul 21, 2026, 9:26 PM EDT
Withdrawn Phase 3 Interventional

Efficacy and Safety of AG10 in Subjects with Transthyretin Amyloid Polyneurophathy

NCT04418024
View directory record Official record
Conditions
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Interventions
AG10, Placebo
Drug
Lead sponsor
Eidos Therapeutics, a BridgeBio company
Industry
Eligibility
18 Years to 90 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Sep 18, 2024 · Synced Jul 21, 2026, 9:26 PM EDT