- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 1 Month to 100 Years
- Enrollment
- 999 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2099
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 49–72
of 73
matching trials from the live ClinicalTrials.gov search.
- Conditions
- Charcot Marie Tooth Disease
- Interventions
- Not listed
- Lead sponsor
- University of Iowa
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2010 – 2025
- U.S. locations
- 9
- States / cities
- Palo Alto, California • Hartford, Connecticut • Orlando, Florida + 6 more
- Conditions
- Scapholunate Advanced Collapse (SLAC), Scapholunate Crystalline Advanced Collapse (SCAC), Scaphoid, Trapezium, and Trapezoid Advanced Collapse (STTAC), Carpal Tunnel Syndrome (CTS), Kienbock's Disease of Adults, Radial Malunion, Ulnar Translocation, Post Traumatic Arthritis, Inflammatory Arthritis, Osteoarthritis, Scaphoid Non-union Advanced Collapse (SNAC)
- Interventions
- KinematX total wrist arthroplasty system
- Device
- Lead sponsor
- Extremity Medical
- Industry
- Eligibility
- 18 Years to 85 Years
- Enrollment
- 50 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2035
- U.S. locations
- 4
- States / cities
- Loma Linda, California • Tampa, Florida • Indianapolis, Indiana + 1 more
- Conditions
- Charcot-Marie-Tooth Disease Type 2D
- Interventions
- nL-GARS1-001
- Drug
- Lead sponsor
- n-Lorem Foundation
- Other
- Eligibility
- 13 Years and older · Female only
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- Houston, Texas
- Conditions
- Charcot-Marie-Tooth Disease, Type Ia
- Interventions
- Ascorbic acid (Vitamin C), placebo
- Drug
- Lead sponsor
- Wayne State University
- Other
- Eligibility
- 13 Years to 70 Years
- Enrollment
- 110 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2012
- U.S. locations
- 3
- States / cities
- Baltimore, Maryland • Detroit, Michigan • Rochester, New York
- Conditions
- Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Progressive Muscular Atrophy, Multisystem Proteinopathy
- Interventions
- Not listed
- Lead sponsor
- University of Miami
- Other
- Eligibility
- Not listed
- Enrollment
- 708 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2015 – 2031
- U.S. locations
- 13
- States / cities
- Palo Alto, California • San Diego, California • San Francisco, California + 10 more
- Conditions
- Charcot-Marie-Tooth Disease
- Interventions
- Home Ankle Strengthing Program, Standard of Care
- Other
- Lead sponsor
- Vanderbilt University Medical Center
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 19 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2019
- U.S. locations
- 1
- States / cities
- Nashville, Tennessee
- Conditions
- Relapsing Multiple Sclerosis
- Interventions
- Remibrutinib, Teriflunomide
- Drug
- Lead sponsor
- Novartis Pharmaceuticals
- Industry
- Eligibility
- 18 Years to 55 Years
- Enrollment
- 1,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2030
- U.S. locations
- 52
- States / cities
- Phoenix, Arizona • Tucson, Arizona • Fort Smith, Arkansas + 47 more
- Conditions
- Charcot-Marie-Tooth Disease, Hereditary Motor and Sensory Neuropathy IV
- Interventions
- Not listed
- Lead sponsor
- Neurogene Inc.
- Industry
- Eligibility
- Not listed
- Enrollment
- 21 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 2
- States / cities
- Iowa City, Iowa • Dallas, Texas
- Conditions
- Charcot-Marie-Tooth Disease
- Interventions
- Not listed
- Lead sponsor
- Nemours Children's Clinic
- Other
- Eligibility
- 5 Years to 21 Years
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2023
- U.S. locations
- 1
- States / cities
- Wilmington, Delaware
- Conditions
- Ulcerative Colitis
- Interventions
- MMX Mesalamine
- Drug
- Lead sponsor
- Shire
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 290 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2009
- U.S. locations
- 62
- States / cities
- Birmingham, Alabama • Jonesboro, Arkansas • Long Beach, California + 53 more
- Conditions
- Dystonia, Drug Induced Dystonia, Parkinson Disease, Essential Tremor, Dyskinesias, Myoclonus, Tic Disorders, Torticollis, Ulnar Nerve Entrapment, Temporomandibular Joint Disorders, Dysphonia
- Interventions
- DystoniaNet-based diagnosis of isolated dystonia
- Diagnostic Test
- Lead sponsor
- Massachusetts Eye and Ear Infirmary
- Other
- Eligibility
- Not listed
- Enrollment
- 1,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2022 – 2028
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus-Merzbacher-Like Disease, 1, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Up to 18 Years
- Enrollment
- 236 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Carpal Tunnel Syndrome, Dupuytren Contracture, Trigger Digit, Ganglion Cysts, De Quervain Disease
- Interventions
- Oxycodone Hcl 5Mg, Ibuprofen 400 mg, Acetaminophen 650 mg
- Drug
- Lead sponsor
- University of Southern California
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2019
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- Conditions
- Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD)
- Interventions
- VCA-894A
- Drug
- Lead sponsor
- Vanda Pharmaceuticals
- Industry
- Eligibility
- Female only
- Enrollment
- 1 participant
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 1
- States / cities
- Madison, Wisconsin
- Conditions
- Charcot-Marie-Tooth Disease, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy
- Interventions
- NT3 blood draw
- Diagnostic Test
- Lead sponsor
- Zarife Sahenk
- Other
- Eligibility
- 7 Years and older
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020
- U.S. locations
- 1
- States / cities
- Columbus, Ohio
- Conditions
- Hereditary Spastic Paraplegia
- Interventions
- Not listed
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
- NIH
- Eligibility
- 7 Years and older
- Enrollment
- 51 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2020
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Charcot-Marie-Tooth Disease
- Interventions
- No intervention involved
- Other
- Lead sponsor
- Sydney Children's Hospitals Network
- Other
- Eligibility
- Up to 4 Years
- Enrollment
- 200 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 2016
- U.S. locations
- 2
- States / cities
- Iowa City, Iowa • Philadelphia, Pennsylvania
- Conditions
- Charcot Marie Tooth Disease
- Interventions
- Coenzyme Q10, Coenzyme Q10
- Drug · Dietary Supplement
- Lead sponsor
- Memorial Medical Center
- Other
- Eligibility
- 18 Years to 75 Years
- Enrollment
- 23 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2013
- U.S. locations
- 1
- States / cities
- Johnstown, Pennsylvania
- Conditions
- Charcot-Marie-Tooth Disease
- Interventions
- FLX-787-ODT (orally disintegrating tablet), Placebo ODT
- Drug
- Lead sponsor
- Flex Pharma, Inc.
- Industry
- Eligibility
- 18 Years and older
- Enrollment
- 27 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2018
- U.S. locations
- 20
- States / cities
- Scottsdale, Arizona • Aurora, Colorado • New Britain, Connecticut + 16 more
- Conditions
- Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
- Interventions
- no intervention
- Other
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Not listed
- Enrollment
- 28 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2030
- U.S. locations
- 1
- States / cities
- San Francisco, California
- Conditions
- Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, SPG4, SPG5A, Spastic Paraplegia 4, Spastic Paraplegia 5A, Early Onset Hereditary Spastic Paraplegia, Neuromuscular Diseases, Spastic Paraplegia, Hereditary
- Interventions
- Not listed
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2027
- U.S. locations
- 11
- States / cities
- Miami, Florida • Iowa City, Iowa • Boston, Massachusetts + 6 more
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome, Adrenoleukodystrophy, AMN, ALD, ALD Gene Mutation, ALD (Adrenoleukodystrophy), X-linked Adrenoleukodystrophy, X-ALD, Adrenomyeloneuropathy, Aicardi Goutieres Syndrome, AGS, Alexander Disease, Alexanders Leukodystrophy, AxD, ADLD, Canavan Disease, CTX, Cerebrotendinous Xanthomatoses, Krabbe Disease, GALC Deficiency, Globoid Leukodystrophy, TUBB4A-Related Leukodystrophy, H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum, HBSL, HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity, LBSL, Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder), Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation, ALSP, CSF1R Gene Mutation, HCC - Hypomyelination and Congenital Cataract, MLC1, Megalencephalic Leukoencephalopathy With Subcortical Cysts, MLD, Metachromatic Leukodystrophy, PMD, Pelizaeus-Merzbacher Disease, PLP1 Null Syndrome, PLP1 Gene Duplication | Blood or Tissue | Mutations, Pelizaeus Merzbacher Like Disease, Peroxisomal Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Salla Disease, Sialic Storage Disease, Sjögren, Sjogren-Larsson Syndrome, Van Der Knapp Disease, Vanishing White Matter Disease, Charcot-Marie-Tooth, CMT, Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency, Allan-Herndon-Dudley Syndrome, Cadasil, Cockayne Syndrome, Multiple Sulfatase Deficiency, Gangliosidoses, GM2 Gangliosidosis, BPAN, Labrune Syndrome, LCC, Mucopolysaccharidoses, TBCK-Related Intellectual Disability Syndrome
- Interventions
- Not listed
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- Not listed
- Enrollment
- 12,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2030
- U.S. locations
- 23
- States / cities
- Los Angeles, California • Orange, California • Palo Alto, California + 18 more
- Conditions
- Charcot-Marie-Tooth Disease With Sorbitol Dehydrogenase Deficiency (CMT-SORD)
- Interventions
- Govorestat, Placebo Control
- Drug
- Lead sponsor
- Applied Therapeutics, Inc.
- Industry
- Eligibility
- 16 Years to 65 Years
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2029
- U.S. locations
- 2
- States / cities
- Iowa City, Iowa • Gordonville, Pennsylvania