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ClinicalTrials.gov public records Last synced Sep 11, 2026, 10:02 AM EDT

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Showing 1–24 of 629 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Filters: Condition: Genetic Muscle Disease Clear all
Recruiting No phase listed Observational Accepts healthy volunteers

Adult and Juvenile Myositis

NCT00017914
View directory record Official record
Conditions
Dermatomyositis, Polymyositis, Inclusion Body Myositis
Interventions
Not listed
Lead sponsor
National Institute of Environmental Health Sciences (NIEHS)
NIH
Eligibility
2 Years to 100 Years
Enrollment
1,200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
Started 1995
U.S. locations
4
States / cities
Atlanta, Georgia • Bethesda, Maryland • Research Triangle Park, North Carolina + 1 more
Source: ClinicalTrials.gov public record
Updated Sep 10, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Active, not recruiting Phase 2 Interventional

Study of BBP-418 in Patients With LGMD2I

NCT04800874
View directory record Official record
Conditions
LGMD2I
Interventions
BBP-418
Drug
Lead sponsor
ML Bio Solutions, Inc.
Industry
Eligibility
12 Years to 55 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2026
U.S. locations
1
States / cities
Richmond, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 20, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Terminated Phase 2Phase 3 Interventional Results available

A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy

NCT04378075
View directory record Official record
Conditions
Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6), Alpers Disease, Alpers Syndrome
Interventions
Vatiquinone, Placebo
Drug · Other
Lead sponsor
PTC Therapeutics
Industry
Eligibility
Up to 20 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
12
States / cities
San Diego, California • Stanford, California • New Haven, Connecticut + 7 more
Source: ClinicalTrials.gov public record
Updated Mar 30, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Not listed No phase listed Observational

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

NCT05419245
View directory record Official record
Conditions
Freeman-Burian Syndrome, Freeman-Sheldon Syndrome, Whistling Face Syndrome, Sheldon-Hall Syndrome, Freeman-Sheldon Syndrome Variant, Arthrogryposis Distal Type 1, Arthrogryposis Distal Type 3, Gordon Syndrome
Interventions
Guided Health History for Freeman-Burian Syndrome Questionnaire, Freeman-Burian syndrome Semi-Structured Quality of Life Interview, Medical Records Review, PTSD Checklist for DSM-5, Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale, Review of Systems, FACE-Q | Craniofacial - Appearance of the Face, FACE-Q | Craniofacial - Appearance Distress, FACE-Q | Craniofacial - Facial Function
Other
Lead sponsor
Dufresne, Craig, MD, PC
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
1
States / cities
Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jul 18, 2022 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 1 Interventional

A Study of CD45RA+ Depleted Haploidentical Stem Cell Transplantation in Children With Relapsed or Refractory Solid Tumors and Lymphomas

NCT01625351
View directory record Official record
Conditions
Ewing Sarcoma, Gastrointestinal Tumor, Germ Cell Tumor, Hepatic Tumor, Lymphoma, Wilms Tumor, Rhabdoid Tumor, Clear Cell Carcinoma, Renal Cell Carcinoma, Melanoma, Neuroblastoma, Rhabdomyosarcoma, Non-rhabdomyosarcoma
Interventions
alemtuzumab, fludarabine, sirolimus, Busulfan, melphalan, stem cells, CliniMACS
Drug · Biological · Device
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
2 Years to 21 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2020
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Feb 5, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Terminated Phase 2 Interventional Results available

Antithymocyte Globulin, Clofarabine, and Rituximab in Treating Patients After an Unsuccessful Stem Cell Transplant

NCT00617929
View directory record Official record
Conditions
Cancer
Interventions
anti-thymocyte globulin, rituximab, clofarabine, stem cell transplantation
Biological · Drug · Procedure
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Not listed
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2015
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 2 Interventional Results available

A 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 in Subjects With DuchenneMuscular Dystrophy Carrying Eligible DMD Duplications.

NCT04179409
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Amondys 45, Exondys 51, Vyondys 53
Drug
Lead sponsor
Kevin Flanigan
Other
Eligibility
6 Months and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Oct 25, 2023 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)

NCT01831934
View directory record Official record
Conditions
MELAS Syndrome
Interventions
Fluzone®
Biological
Lead sponsor
Stanford University
Other
Eligibility
13 Years to 65 Years
Enrollment
22 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2012
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated May 29, 2017 · Synced Sep 11, 2026, 10:02 AM EDT
Recruiting No phase listed Observational

Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

NCT03981575
View directory record Official record
Conditions
Myotonic Dystrophy 1, DM1
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
18 Years to 70 Years
Enrollment
700 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
10
States / cities
La Jolla, California • Los Angeles, California • Denver, Colorado + 7 more
Source: ClinicalTrials.gov public record
Updated Jun 9, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy

NCT02269865
View directory record Official record
Conditions
Myotonic Dystrophy Type 1
Interventions
Not listed
Lead sponsor
Stanford University
Other
Eligibility
8 Years to 17 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2016
U.S. locations
1
States / cities
Stanford, California
Source: ClinicalTrials.gov public record
Updated Oct 20, 2014 · Synced Sep 11, 2026, 10:02 AM EDT
Completed No phase listed Observational

Comparative Study of Clinical Endpoint in DMD: Handheld Myometry (HHM) Versus CINRG Quantitative Measurement System (CQMS)

NCT01125709
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Not listed
Lead sponsor
Cooperative International Neuromuscular Research Group
Network
Eligibility
6 Years to 18 Years · Male only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010
U.S. locations
3
States / cities
Washington D.C., District of Columbia • St Louis, Missouri • Charlotte, North Carolina
Source: ClinicalTrials.gov public record
Updated Jan 10, 2013 · Synced Sep 11, 2026, 10:02 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

PatientSpot Formerly Known as ArthritisPower

NCT03840928
View directory record Official record
Conditions
Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout, Crohn Disease, Juvenile Idiopathic Arthritis, Lupus Erythematosus, Myositis, Osteoarthritis, Osteoporosis, Psoriasis, Psoriatic Arthritis, Scleroderma, Dermatomyositis, Inflammatory Bowel Diseases, Polymyositis, Axial Spondyloarthritis, Diffuse Idiopathic Skeletal Hyperostosis, Polymyalgia Rheumatica, Giant Cell Arteritis, Temporal Arteritis, Wegener, Relapsing Polychondritis, Undifferentiated Connective Tissue Disease, Spinal Cord Injuries, Alzheimer Disease, Amyotrophic Lateral Sclerosis, Ataxia, Bell Palsy, Brain Tumor, Cerebral Aneurysm, Epilepsy, Guillain-Barre Syndrome, Headache, Head Injury, Hydrocephalus, Lumbar Disc Disease, Meningitis, Multiple Sclerosis, Muscular Dystrophy, Neurocutaneous Syndromes, Parkinson Disease, Stroke, Cluster Headache, Tension-Type Headache, Chronic Obstructive Pulmonary Disease, Asthma, Lung Cancer, Cystic Fibrosis, Sleep Apnea, Eczema, Alopecia, Chronic Inflammation, Unstable Angina, Heart Attack, Heart Failure, Arrythmia, Valve Heart Disease, High Blood Pressure, Congenital Heart Disease, Peripheral Arterial Disease, Diabetes, Chronic Liver Disease, Obesity
Interventions
Not listed
Lead sponsor
Global Healthy Living Foundation
Other
Eligibility
19 Years and older
Enrollment
40,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2025
U.S. locations
1
States / cities
Upper Nyack, New York
Source: ClinicalTrials.gov public record
Updated Dec 12, 2023 · Synced Sep 11, 2026, 10:02 AM EDT
Recruiting No phase listed Observational

Natural History Study of Patients with HPDL Mutations

NCT05848271
View directory record Official record
Conditions
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease, Neonatal Encephalopathy, Mutation, Genetic Disease
Interventions
Patient Registry, Dry blood spots sampling
Other
Lead sponsor
University of California, San Diego
Other
Eligibility
Not listed
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Mar 29, 2025 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension

NCT02531217
View directory record Official record
Conditions
Facioscapulohumeral Muscular Dystrophy
Interventions
ATYR1940
Biological
Lead sponsor
aTyr Pharma, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2016
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 17, 2023 · Synced Sep 11, 2026, 10:02 AM EDT
Completed No phase listed Observational

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

NCT03981289
View directory record Official record
Conditions
Limb Girdle Muscular Dystrophy, Muscular Dystrophies
Interventions
Not listed
Lead sponsor
Virginia Commonwealth University
Other
Eligibility
4 Years to 65 Years
Enrollment
116 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2025
U.S. locations
9
States / cities
Irvine, California • Aurora, Colorado • Iowa City, Iowa + 6 more
Source: ClinicalTrials.gov public record
Updated Feb 26, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity

NCT04708431
View directory record Official record
Conditions
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
8 Years to 99 Years
Enrollment
650 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2040
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 12, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Pediatric Radio Frequency Coils Generic

NCT01633866
View directory record Official record
Conditions
Duchenne Muscular Dystrophy, Musculoskeletal Abnormalities
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
75 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2031
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 11, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 2 Interventional Results available

Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy

NCT02819557
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Ataluren
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
2 Years to 5 Years · Male only
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
6
States / cities
Gulf Breeze, Florida • Chicago, Illinois • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Aug 27, 2020 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Not applicable Interventional

Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders

NCT01961557
View directory record Official record
Conditions
Incomplete Spinal Cord Injury, Muscular Dystrophy, Spina Bifida, Cerebral Palsy
Interventions
EA-KAFO
Device
Lead sponsor
National Institutes of Health Clinical Center (CC)
NIH
Eligibility
5 Years to 100 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 31, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Extracellular RNA Biomarkers of Myotonic Dystrophy

NCT05020002
View directory record Official record
Conditions
Myotonic Dystrophy
Interventions
Not listed
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
5 Years and older
Enrollment
215 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2027
U.S. locations
3
States / cities
Boston, Massachusetts • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Nov 23, 2025 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Phase 1 Interventional

Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1

NCT06204809
View directory record Official record
Conditions
Myotonic Dystrophy 1
Interventions
PGN-EDODM1 for infusion, Placebo
Drug · Other
Lead sponsor
PepGen Inc
Industry
Eligibility
18 Years to 60 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
7
States / cities
Irvine, California • Palo Alto, California • Atlanta, Georgia + 4 more
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Sep 11, 2026, 10:02 AM EDT
Completed Not applicable Interventional Results available

Duchenne Muscular Dystrophy Clinical Trial

NCT01874275
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
VECTTOR
Device
Lead sponsor
Alan Neuromedical Technologies, LLC
Industry
Eligibility
8 Years to 20 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated May 3, 2015 · Synced Sep 11, 2026, 10:02 AM EDT
Active, not recruiting Phase 2 Interventional Results available

pTVG-HP DNA Vaccine With or Without pTVG-AR DNA Vaccine and Pembrolizumab in Patients With Castration-Resistant, Metastatic Prostate Cancer

NCT04090528
View directory record Official record
Conditions
Castration-resistant Prostate Cancer, Metastatic Cancer, Prostate Cancer
Interventions
pTVG-HP, pTVG-AR, Pembrolizumab
Biological · Drug
Lead sponsor
University of Wisconsin, Madison
Other
Eligibility
18 Years and older · Male only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
2
States / cities
St Louis, Missouri • Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Sep 11, 2026, 10:02 AM EDT