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Showing 1–24 of 72 matching trials from the live ClinicalTrials.gov search.
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Active, not recruiting No phase listed Observational Accepts healthy volunteers

Phenotype, Genotype and Biomarkers 2

NCT04875416
Conditions
Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegia, Primary Lateral Sclerosis, Progressive Muscular Atrophy, Frontotemporal Dementia
Interventions
Not listed
Lead sponsor
University of Miami
Other
Eligibility
7 Years and older
Enrollment
217 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2031
U.S. locations
3
States / cities
Miami, Florida • Kansas City, Kansas • Philadelphia, Pennsylvania
Conditions
Bladder Outlet Obstruction, Multiple Sclerosis, Cauda Equina Syndrome, Enlarged Prostate With Lower Urinary Tract Symptoms, Parkinson Disease, Lower Urinary Tract Symptoms, Detrusor Underactivity, Spinal Cord Injuries
Interventions
Intermittent self-catheterisation
Device
Lead sponsor
ConvaTec Inc.
Industry
Eligibility
18 Years to 100 Years · Male only
Enrollment
72 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
2
States / cities
West Orange, New Jersey • Philadelphia, Pennsylvania
Conditions
Multiple Sclerosis
Interventions
ofatumumab with PRF, ofatumumab with AI
Combination Product
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 55 Years
Enrollment
284 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
13
States / cities
Fullerton, California • Aurora, Colorado • Basalt, Colorado + 9 more
Conditions
Non-traumatic Musculoskeletal Conditions, Carpal Tunnel Syndrome (CTS), Lateral Epicondylitis, Osteoarthritis, Trigger Digit, Dupuytren Contracture, Rotator Cuff Tendinopathy, De Quervain Disease
Interventions
Diagnostic Advance Care Planning Discussion, Informational Statement Only
Behavioral
Lead sponsor
University of Texas at Austin
Other
Eligibility
18 Years and older
Enrollment
220 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Austin, Texas
Conditions
Charcot-Marie-Tooth Disease Type 1A
Interventions
PXT3003 dose 1, PXT3003 dose 2, placebo
Drug
Lead sponsor
Pharnext S.C.A.
Other
Eligibility
16 Years to 65 Years
Enrollment
323 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
11
States / cities
Los Angeles, California • New Britain, Connecticut • Gainesville, Florida + 8 more
Conditions
Cerebral Palsy (CP), Stroke, Spinal Cord Injury, Traumatic Brain Injury, Charcot Marie Tooth Disease (CMT), Spina Bifida
Interventions
Participate in high intensity exercise of at least 20 minutes in 60 minutes session of RPE greater than 6.
Behavioral
Lead sponsor
University of Hartford
Other
Eligibility
8 Years to 99 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025
U.S. locations
1
States / cities
West Hartford, Connecticut
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
AMN, AMN Gene Mutation, X-ALD
Interventions
Natural History Observation
Other
Lead sponsor
SwanBio Therapeutics, Inc.
Industry
Eligibility
18 Years and older · Male only
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
4
States / cities
Stanford, California • Boston, Massachusetts • New York, New York + 1 more
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
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

NuroSleeve Powered Brace & Stimulation System to Restore Arm Function

NCT04798378
Conditions
Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies, Arthrogryposis, Spinal Cord Injuries, Charcot-Marie-Tooth, Stroke, Weakness of Extremities as Sequela of Stroke, Weakness Due to Upper Motor Neuron Dysfunction, Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy, Arm Paralysis, Cerebral Palsy
Interventions
Neurosleeve
Device
Lead sponsor
Thomas Jefferson University
Other
Eligibility
4 Years and older
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2026
U.S. locations
2
States / cities
Wilmington, Delaware • Philadelphia, Pennsylvania
Conditions
CMT 1A
Interventions
UIHC Driving Simulator
Device
Lead sponsor
Jerath U Nivedita
Other
Eligibility
16 Years and older
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Iowa City, Iowa
Conditions
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A, Charcot-Marie-Tooth Disease Type 2, Charcot-Marie-Tooth Disease, Type 2C, Charcot-Marie-Tooth Disease Type 2A2B, Charcot-Marie-Tooth Disease Type 2B2, Charcot-Marie-Tooth Disease Type 2A1, Charcot-Marie-Tooth Disease Type 4B1, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth Disease Type 2B1, Charcot-Marie-Tooth Disease Type 2U (Diagnosis), Charcot-Marie-Tooth Disease Type 4A, Charcot-Marie-Tooth Disease, Type 4A, Axonal Form, Charcot-Marie-Tooth Disease Type 2A2A, Charcot-Marie-Tooth Disease Type 2S (Disorder), Charcot-Marie-Tooth Disease and Deafness, Charcot-Marie-Tooth Disease Type 4B2, Charcot-Marie-Tooth Disease Type 4H, Charcot-Marie-Tooth Disease Type 1F, Charcot-Marie-Tooth Disease Type 4C, Charcot-Marie-Tooth Disease Type 4E, Charcot-Marie-Tooth Disease Type 1D, Charcot-Marie-Tooth Disease Type 2Q (Diagnosis), Charcot-Marie-Tooth Disease Type 2A2, Charcot-Marie-Tooth Disease Type 2N (Diagnosis), Charcot-Marie-Tooth Disease Type 2B5, Charcot-Marie-Tooth Disease Type 2D, Charcot-Marie-Tooth Disease Type 4D, Charcot-Marie-Tooth Disease Type 2K, Charcot-Marie-Tooth Disease Type 2L (Diagnosis), Charcot-Marie-Tooth Disease Type 2T, Charcot-Marie-Tooth Disease Type 2I, Charcot-Marie-Tooth Disease Type 2J, Charcot-Marie-Tooth Disease Type 2E, Charcot-Marie-Tooth Disease Type 2G, Charcot-Marie-Tooth Disease Type 1C, Charcot-Marie-Tooth Disease Type 2R, Charcot-Marie-Tooth Disease Type 2O (Diagnosis), Charcot-Marie-Tooth Disease Type 2M, Charcot-Marie-Tooth Disease Type 2P, Charcot-Marie-Tooth Disease Type 2Y, Charcot-Marie-Tooth Disease Type 4F (Diagnosis), Charcot-Marie-Tooth Disease Type 4B3, Charcot-Marie-Tooth Disease Type 2H, HNPP, X-Linked Charcot-Marie-Tooth Disease
Interventions
Not listed
Lead sponsor
Hereditary Neuropathy Foundation
Government
Eligibility
Not listed
Enrollment
10,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2029
U.S. locations
1
States / cities
New York, New York
Recruiting No phase listed Observational Accepts healthy volunteers

Inherited Retinal Degenerative Disease Registry

NCT02435940
Conditions
Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome, Bassen-Kornzweig Syndrome, Batten Disease, Best Disease, Choroidal Dystrophy, Choroideremia, Cone Dystrophy, Cone-Rod Dystrophy, Congenital Stationary Night Blindness, Enhanced S-Cone Syndrome, Fundus Albipunctatus, Goldmann-Favre Syndrome, Gyrate Atrophy, Juvenile Macular Degeneration, Kearns-Sayre Syndrome, Leber Congenital Amaurosis, Refsum Syndrome, Retinitis Pigmentosa, Retinitis Punctata Albescens, Retinoschisis, Rod-Cone Dystrophy, Rod Dystrophy, Rod Monochromacy, Stargardt Disease, Usher Syndrome
Interventions
Not listed
Lead sponsor
Foundation Fighting Blindness
Other
Eligibility
Not listed
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2037
U.S. locations
1
States / cities
Columbia, Maryland
Recruiting No phase listed Observational Accepts healthy volunteers

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

NCT01193088
Conditions
Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN
Interventions
Not listed
Lead sponsor
University of Iowa
Other
Eligibility
Not listed
Enrollment
1,050 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2026
U.S. locations
17
States / cities
Los Angeles, California • Palo Alto, California • Aurora, Colorado + 13 more
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
Conditions
Persistent Post-concussive Syndrome, Concussion Post Syndrome
Interventions
Hyperbaric oxygen at 1.5 ATA, Sham treatment
Drug
Lead sponsor
Essentia Health
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
1
States / cities
Fargo, North Dakota
Completed No phase listed Observational Accepts healthy volunteers

Development and Validation of a Disability Severity Index for CMT

NCT01455623
Conditions
Charcot Marie Tooth Disease
Interventions
Not listed
Lead sponsor
University of Iowa
Other
Eligibility
8 Years and older
Enrollment
291 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2014
U.S. locations
1
States / cities
Iowa City, Iowa
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
Charcot-Marie-Tooth Disease, Type IA
Interventions
PXT3003
Drug
Lead sponsor
Pharnext S.C.A.
Other
Eligibility
17 Years to 67 Years
Enrollment
187 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
9
States / cities
Los Angeles, California • Gainesville, Florida • Kansas City, Kansas + 6 more
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 &#X7C; Blood or Tissue &#X7C; 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
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
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome, Primary Lateral Sclerosis, Spinal Muscular Atrophy, Charcot Marie Tooth Disease (CMT), Fascioscapulohumeral Muscular Dystrophy, Inclusion Body Myositis, Mitochondrial Myopathy, Nemaline Myopathy, Centronuclear Myopathy, Postpolio Syndrome, Pompe Disease (Late-onset), Chronic Inflammatory Demyelinating Polyneuropathy, Hereditary Spastic Paraplegia, Postural Orthostatic Tachycardia Syndrome (POTS), Progressive Muscular Atrophy
Interventions
Whole-body Electrical Muscle Stimulation Exercise
Device
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Columbia, Missouri
Conditions
Charcot-Marie-Tooth Disease
Interventions
NMD670, Placebo
Drug
Lead sponsor
NMD Pharma A/S
Industry
Eligibility
18 Years to 70 Years
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
8
States / cities
Kansas City, Kansas • Boston, Massachusetts • Columbia, Missouri + 5 more
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