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Showing 1–24 of 934 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 1 Interventional

A Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy

NCT02251600
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Deflazacort
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
4 Years to 16 Years · Male only
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
4
States / cities
Los Angeles, California • Chicago, Illinois • Rochester, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 17, 2017 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Use of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)

NCT01856868
View directory record Official record
Conditions
Becker Muscular Dystrophy
Interventions
(-)-epicatechin
Drug
Lead sponsor
Craig McDonald, MD
Other
Eligibility
18 Years to 60 Years · Male only
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2018
U.S. locations
1
States / cities
Sacramento, California
Source: ClinicalTrials.gov public record
Updated Dec 21, 2021 · Synced Sep 23, 2026, 5:56 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Development of the ORCA Communication Measure for Rett Syndrome

NCT04920110
View directory record Official record
Conditions
Rett Syndrome
Interventions
Not listed
Lead sponsor
Rett Syndrome Research Trust
Other
Eligibility
18 Years and older
Enrollment
272 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Apr 21, 2022 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 4 Interventional

Replagal Enzyme Replacement Therapy for Adults With Fabry Disease

NCT00097890
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal (Agalsidase Alfa), Replagal
Drug
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Male only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2005
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Sep 23, 2026, 5:56 PM EDT
Recruiting No phase listed Observational

Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy-SUMMIT

NCT06564974
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Vamorolone
Drug
Lead sponsor
Catalyst Pharmaceuticals, Inc.
Industry
Eligibility
2 Years and older · Male only
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2032
U.S. locations
31
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Loma Linda, California + 27 more
Source: ClinicalTrials.gov public record
Updated Jul 19, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Terminated No phase listed Observational

Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

NCT06014541
View directory record Official record
Conditions
Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
1 Month to 65 Years · Male only
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
5
States / cities
San Diego, California • Saint Paul, Minnesota • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 8, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Not applicable Interventional Results available

Decisional Capacity and Informed Consent in Fragile X Syndrome

NCT02465931
View directory record Official record
Conditions
Fragile X Syndrome (FXS)
Interventions
Paper and Pencil Informed Consent, Digital Informed Consent Tool
Other
Lead sponsor
RTI International
Other
Eligibility
12 Years to 40 Years
Enrollment
152 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 6, 2019 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 1 Interventional

A Study of a Long-Acting r-Factor 7a (Factor VIIa) in Adult Men With Hemophilia A or B

NCT02418793
View directory record Official record
Conditions
Hemophilia A, Hemophilia B
Interventions
MOD-5014
Drug
Lead sponsor
OPKO Health, Inc.
Industry
Eligibility
18 Years to 65 Years · Male only
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
11
States / cities
Duarte, California • Los Angeles, California • Sacramento, California + 7 more
Source: ClinicalTrials.gov public record
Updated May 19, 2021 · Synced Sep 23, 2026, 5:56 PM EDT
Active, not recruiting Phase 3 Interventional

A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)

NCT05606614
View directory record Official record
Conditions
Rett Syndrome
Interventions
TSHA-102
Genetic
Lead sponsor
Taysha Gene Therapies, Inc.
Industry
Eligibility
6 Years to 21 Years · Female only
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2031
U.S. locations
8
States / cities
Duarte, California • La Jolla, California • Oakland, California + 5 more
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Recruiting No phase listed Observational

Adrenoleukodystrophy National Registry Study

NCT03789721
View directory record Official record
Conditions
ALD (Adrenoleukodystrophy), Adrenoleukodystrophy, Cerebral Adrenoleukodystrophy
Interventions
Medical Record Abstraction, Biospecimen Sample Collection
Other
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2030
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated May 11, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Completed No phase listed Observational

Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

NCT04959188
View directory record Official record
Conditions
Dyskeratosis Congenita, Telomere Biology Disorders
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years to 100 Years
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 10, 2024 · Synced Sep 23, 2026, 5:56 PM EDT
Approved For Marketing No phase listed Expanded access

Deflazacort Expanded Access Program for Children, Adolescents and Adults With Duchenne Muscular Dystrophy

NCT02592941
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Deflazacort
Drug
Lead sponsor
PTC Therapeutics
Industry
Eligibility
5 Years and older
U.S. locations
42
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 36 more
Source: ClinicalTrials.gov public record
Updated Feb 27, 2018 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 3 Interventional Results available

Recombinant Factor VIIa BI (rFVIIa BI) Treatment of Acute Bleeding Episodes Per an On-demand Regimen

NCT01757405
View directory record Official record
Conditions
Hemophilia A, Hemophilia B
Interventions
Recombinant Factor VIIa BI (rFVIIa BI)
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
12 Years to 65 Years · Male only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2014
U.S. locations
1
States / cities
Tampa, Florida
Source: ClinicalTrials.gov public record
Updated May 10, 2021 · Synced Sep 23, 2026, 5:56 PM EDT
Recruiting Phase 2 Interventional

Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders

NCT03579875
View directory record Official record
Conditions
Fanconi Anemia, Severe Aplastic Anemia, Myelodysplastic Syndromes, T Cell Receptor Alpha/Beta Depletion, Telomere Biology Disorder, Bone Marrow Failure, Dyskeratosis Congenita, Telomere Biology Disorders
Interventions
Total Body Irradiation (TBI) (Plan 1), Cyclophosphamide (CY) (Plan 1), Fludarabine (FLU), Methylprednisolone (MP), Donor mobilized PBSC infusion, G-CSF, Cyclophosphamide (CY) (Plan 2), Rituximab, Busulfan, Alemtuzumab, Melphalan
Drug · Device
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 65 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2029
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jan 29, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 2 Interventional Results available

Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease

NCT02489344
View directory record Official record
Conditions
Fabry Disease
Interventions
GZ/SAR402671
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
18 Years and older · Male only
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
3
States / cities
Atlanta, Georgia • Cincinnati, Ohio • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Mar 22, 2021 · Synced Sep 23, 2026, 5:56 PM EDT
Not listed Phase 1Phase 2 Interventional

Single Escalating Dose Pilot Trial of Canakinumab (ILARIS®) in Duchenne Muscular Dystrophy

NCT03936894
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
Canakinumab Injection [Ilaris]
Drug
Lead sponsor
Children's National Research Institute
Other
Eligibility
2 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Sep 20, 2023 · Synced Sep 23, 2026, 5:56 PM EDT
Completed No phase listed Observational Results available

A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.

NCT04281537
View directory record Official record
Conditions
Fabry Disease
Interventions
Enzyme Replacement Therapy (ERT)
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
82 participants
Timeline
2020 – 2022
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Feb 4, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Active, not recruiting Phase 2 Interventional

Immune Disorder HSCT Protocol

NCT01821781
View directory record Official record
Conditions
Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Hyper-IgM, DiGeorge Syndrome, Chediak-Higashi Syndrome, Common Variable Immune Deficiency, Immune Dysregulatory Disorders, Hemophagocytic Lymphohistiocytosis, IPEX, Autoimmune Lymphoproliferative Syndrome, X-linked Lymphoproliferative Syndrome
Interventions
Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
Drug
Lead sponsor
Washington University School of Medicine
Other
Eligibility
Up to 21 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2026
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Feb 18, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 2 Interventional Results available

Stem Cell Transplant for Immunologic or Histiocytic Disorders

NCT00176865
View directory record Official record
Conditions
Hemophagocytic Lymphohistiocytosis, X-Linked Lymphoproliferative Disorders, Chediak-Higashi Syndrome, Griscelli Syndrome, Immunologic Deficiency Syndromes, Langerhans-Cell Histiocytosis
Interventions
Stem Cell Transplant, Fludarabine, Melphalan, Anti-thymocyte globulin (ATG), Campath 1H, Cyclosporin A, Mycophenolate mofetil, Intravenous immunoglobulin (IVIG)
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 35 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2014
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 2 Interventional Results available

Twice Weekly Steroids and Exercise as Therapy for DMD

NCT04322357
View directory record Official record
Conditions
Duchenne Muscular Dystrophy (DMD)
Interventions
Prednisone, Exercise Training on standard steroid regimen, Exercise training on twice-weekly steroids
Drug · Behavioral
Lead sponsor
University of Florida
Other
Eligibility
5 Years to 9 Years · Male only
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Mar 12, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Enrolling by invitation Phase 2 Interventional

An Open-label Long-term Follow-up Study of SAT-3247 for Participants With Duchenne Muscular Dystrophy Including Those Who Participated in SAT-3247-CL-101

NCT06867107
View directory record Official record
Conditions
Duchenne Muscular Dystrophy (DMD)
Interventions
SAT-3247
Drug
Lead sponsor
Satellos Bioscience, Inc.
Industry
Eligibility
16 Years to 40 Years · Male only
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
3
States / cities
Los Angeles, California • Columbus, Ohio • Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 20, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Recruiting No phase listed Observational

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

NCT04398628
View directory record Official record
Conditions
Hematologic Disorder, Bleeding Disorder, Connective Tissue Disorder, Hemophilia, Thrombosis, Von Willebrand Diseases, Thrombophilia, Rare Bleeding Disorder, Platelet Disorder, Factor IX Deficiency, Factor VIII Deficiency, Thalassemia, Sickle Cell Disease
Interventions
Not listed
Lead sponsor
American Thrombosis and Hemostasis Network
Network
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2035
U.S. locations
76
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 60 more
Source: ClinicalTrials.gov public record
Updated Aug 16, 2026 · Synced Sep 23, 2026, 5:56 PM EDT
Completed Phase 1Phase 2 Interventional Results available

Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency

NCT02991144
View directory record Official record
Conditions
Ornithine Transcarbamylase (OTC) Deficiency
Interventions
scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
Genetic · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
4
States / cities
Aurora, Colorado • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 25, 2023 · Synced Sep 23, 2026, 5:56 PM EDT
Completed No phase listed Observational

Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy

NCT02195999
View directory record Official record
Conditions
Muscular Dystrophy, Duchenne
Interventions
Magnetic Resonance Imaging (MRI), Pulmonary Function Testing (PFT), Metabolic Exercise Testing using stationary bicycle, Echocardiogram
Other
Lead sponsor
University of Florida
Other
Eligibility
5 Years to 15 Years · Male only
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Jul 7, 2019 · Synced Sep 23, 2026, 5:56 PM EDT