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Showing 1–24 of 986 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
Hemophagocytic Lymphohistiocytosis, Chronic Active Epstein-Barr Virus Infection, Chronic Granulomatous Disease, HIGM-1, Leukocyte Adhesion Deficiency, IPEX
Interventions
Hematopoietic Stem Cell Transplant
Biological
Lead sponsor
Medical College of Wisconsin
Other
Eligibility
4 Months to 45 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
19
States / cities
Birmingham, Alabama • Washington D.C., District of Columbia • Atlanta, Georgia + 16 more
Completed Phase 1Phase 2 Interventional Results available

A Gene Transfer Study for Hemophilia A

NCT03003533
Conditions
Hemophilia A
Interventions
SPK-8011
Genetic
Lead sponsor
Spark Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
11
States / cities
Sacramento, California • Gainesville, Florida • Boston, Massachusetts + 7 more
Conditions
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency, Glycogen Storage Disorders, Pyruvate Carboxylase Deficiency Disease, ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of, Barth Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
1 Month and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Conditions
Fragile X Syndrome
Interventions
Baclofen, Memantine, Roflumilast, Placebo
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 45 Years
Enrollment
45 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Terminated Phase 1Phase 2 Interventional

A Fabry Disease Gene Therapy Study

NCT04040049
Conditions
Fabry Disease, Lysosomal Storage Diseases
Interventions
FLT190
Genetic
Lead sponsor
Spur Therapeutics
Industry
Eligibility
18 Years and older · Male only
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2023
U.S. locations
4
States / cities
Los Angeles, California • New York, New York • Pittsburgh, Pennsylvania + 1 more
Conditions
Duchenne Muscular Dystrophy
Interventions
Not listed
Lead sponsor
Cooperative International Neuromuscular Research Group
Network
Eligibility
4 Years and older · Male only
Enrollment
53 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
8
States / cities
Sacramento, California • Stanford, California • Washington D.C., District of Columbia + 5 more
Completed Phase 1Phase 2 Interventional Results available

Phase 1/2 Study in Boys With Duchenne Muscular Dystrophy

NCT02439216
Conditions
Muscular Dystrophy, Duchenne
Interventions
Edasalonexent, Placebo
Drug
Lead sponsor
Catabasis Pharmaceuticals
Industry
Eligibility
4 Years to 7 Years · Male only
Enrollment
31 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
5
States / cities
Los Angeles, California • Gainesville, Florida • Orlando, Florida + 2 more
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

NCT02413450
Conditions
Inherited Cardiac Arrythmias, Long QT Syndrome (LQTS), Brugada Syndrome (BrS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Early Repolarization Syndrome (ERS), Arrhythmogenic Cardiomyopathy (AC, ARVD/C), Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Normal Control Subjects
Interventions
Not listed
Lead sponsor
Johns Hopkins University
Other
Eligibility
18 Years to 85 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2031
U.S. locations
1
States / cities
Baltimore, Maryland
Conditions
Duchenne Muscular Dystrophy
Interventions
PF-06939926, Placebo
Genetic · Other
Lead sponsor
Pfizer
Industry
Eligibility
4 Years to 7 Years · Male only
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2039
U.S. locations
17
States / cities
Little Rock, Arkansas • Los Angeles, California • Gainesville, Florida + 8 more
Recruiting Not applicable Interventional Accepts healthy volunteers

Speech-in-noise Perception in Autism and Fragile X

NCT06088589
Conditions
Autism Spectrum Disorder, Fragile X Syndrome
Interventions
Mismatch negativity
Behavioral
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
15 Years to 35 Years
Enrollment
60 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Inherited Metabolic Diseases, Lysosomal Storage Disorders, Peroxisomal Storage Diseases, Inborn Errors of Metabolism, Mucopolysaccharidosis
Interventions
ALD-101
Biological
Lead sponsor
Aldagen
Industry
Eligibility
Up to 16 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2011
U.S. locations
3
States / cities
Los Angeles, California • New York, New York • Durham, North Carolina
Conditions
Hemophilia B
Interventions
HEMGENIX, Factor IX (FIX)
Genetic · Biological
Lead sponsor
CSL Behring
Industry
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2043
U.S. locations
1
States / cities
Rochester, New York
Conditions
Duchenne Muscular Dystrophy
Interventions
Observational study
Other
Lead sponsor
BioMarin Pharmaceutical
Industry
Eligibility
3 Years to 18 Years · Male only
Enrollment
269 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
3
States / cities
Sacramento, California • Cincinnati, Ohio • Columbus, Ohio
Conditions
Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Year to 99 Years
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2025
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
OTC Deficiency
Interventions
DTX301, Placebo, Oral Corticosteroids, Placebo for oral corticosteroids, Sodium Acetate
Genetic · Other · Drug
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
12 Years and older
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2031
U.S. locations
4
States / cities
Los Angeles, California • Aurora, Colorado • Chicago, Illinois + 1 more
Conditions
Fabry Disease
Interventions
migalastat HCl 150 mg
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
12 Years to 17 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
5
States / cities
Tampa, Florida • Atlanta, Georgia • Minneapolis, Minnesota + 2 more
Conditions
Fabry Disease
Interventions
migalastat hydrochloride, agalsidase
Drug · Biological
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
16 Years to 74 Years
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2015
U.S. locations
8
States / cities
Los Angeles, California • Aurora, Colorado • Decatur, Georgia + 5 more
Conditions
Duchenne Muscular Dystrophy
Interventions
Prednisone
Drug
Lead sponsor
Cooperative International Neuromuscular Research Group
Network
Eligibility
4 Years to 10 Years · Male only
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2008
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Conditions
Mucopolysaccharidosis II, MPS II
Interventions
SB-913
Biological
Lead sponsor
Sangamo Therapeutics
Industry
Eligibility
5 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2021
U.S. locations
5
States / cities
Oakland, California • Chicago, Illinois • New York, New York + 2 more
Conditions
Fabry Disease
Interventions
migalastat
Drug
Lead sponsor
Amicus Therapeutics
Industry
Eligibility
Female only
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Wiskott-Aldrich Syndrome
Interventions
OTL-103
Genetic
Lead sponsor
Fondazione Telethon
Other
Eligibility
Up to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2027
U.S. locations
1
States / cities
Atlanta, Georgia
Withdrawn Phase 2Phase 3 Interventional

Trial of Kuvan in Lesch-Nyhan Disease

NCT00935753
Conditions
Behavioral Manifestations of Lesch-Nyhan Disease
Interventions
sapropterin
Drug
Lead sponsor
University of California, San Diego
Other
Eligibility
4 Years and older
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2010
U.S. locations
1
States / cities
San Diego, California
Conditions
Rett Syndrome
Interventions
Drug: Bionetide, Placebo
Drug
Lead sponsor
Biomed Industries, Inc.
Industry
Eligibility
5 Years to 20 Years · Female only
Enrollment
187 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
12
States / cities
La Jolla, California • Los Angeles, California • Sacramento, California + 9 more
Conditions
Retinitis Pigmentosa
Interventions
Not listed
Lead sponsor
MeiraGTx UK II Ltd
Industry
Eligibility
5 Years and older
Enrollment
140 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
6
States / cities
La Jolla, California • Stanford, California • Atlanta, Georgia + 3 more