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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in FranceCharcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, autoimmune disease, autoimmune disorder of the nervous system, central nervous system malformation, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inherited neurodegenerative disorder, nervous system disorder, neuritis, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathyNot yet recruitingNot stated2026-10-01NCT07851844
Rare Disease Registry Database for Movement Disorders in Southern Anhui ProvinceCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Neurologic Manifestations, Spinocerebellar Ataxias, Spinocerebellar Degenerations, atactic disorder, non-human animal, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar ataxia, cerebellar disorder, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, spinal cord disorderActive, not recruitingNot stated2026-09-24NCT07838883
High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND ProjectCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, TDP-43 proteinopathy, amyotrophic lateral sclerosis, central nervous system disorder, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, metabolic disease, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, proteostasis deficiencies, spinal cord disorderRecruitingNot applicable2026-09-21NCT06881979
Natural History Study for Charcot Marie Tooth DiseaseCharcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease, Type IB, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2H, Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2B5, Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2T, Charcot-Marie-Tooth disease type 2Y, Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease, Type 2A, Charcot-Marie-Tooth disease, Type 2K, Charcot-Marie-Tooth disease, Type 4A, axonal form, Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Hereditary Motor and Sensory Neuropathy, Type IIC, Pathologic Processes, Pathological Conditions, Signs and Symptoms, autosomal dominant Charcot-Marie-Tooth disease type 2K, central nervous system malformation, disease, hereditary disease, hereditary motor and sensory neuropathy, hereditary neuropathy with liability to pressure palsies, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot stated2026-09-17NCT05902351
Polyneuropathy, Impairments and Physical Activity - The PolyImPAct StudyAbnormalities, Multiple, Blood Protein Disorders, Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Complications, Disease Attributes, Hemic and Lymphatic Diseases, POEMS syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, autoimmune disease, autoimmune disorder of the nervous system, central nervous system malformation, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, diabetes mellitus, diabetic neuropathy, diabetic polyneuropathy, endocrine system disorder, hematologic disorder, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, immunoproliferative disorder, inherited neurodegenerative disorder, monoclonal gammopathy, multifocal motor neuropathy, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy, vasculitic neuropathyActive, not recruitingNot stated2026-09-15NCT06040567
Genetic and Physical Study of Childhood Nerve and Muscle DisordersCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyActive, not recruitingNot stated2026-09-09NCT01568658
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic AtaxiasCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Disease Progression, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Spinocerebellar Degenerations, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar disorder, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, spastic ataxia, spinal cord disorderRecruitingNot stated2026-09-01NCT07798674
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual PatientCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyActive, not recruitingPhase 1 / Phase 22026-08-19NCT07223632
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersArts syndrome, Blood Protein Disorders, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, Hemolysis, Lesch-Nyhan syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Oroticaciduria 1, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, Sneddon syndrome, X-linked disease, adenine phosphoribosyltransferase deficiency, adenosine monophosphate deaminase deficiency, adenylosuccinate lyase deficiency, anemia, beta-ureidopropionase deficiency, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebrovascular disorder, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, dysgammaglobulinemia, hematologic disorder, hereditary disease, hereditary motor and sensory neuropathy, hyper-IgM syndrome, immune system disorder, inborn disorder of purine or pyrimidine metabolism, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, inosine triphosphatase deficiency, intellectual disability, metabolic disease, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, pontocerebellar hypoplasia, postaxial acrofacial dysostosis, purine nucleoside phosphorylase deficiency, skin disorder, skin vascular disease, vascular disorder, xanthinuria type IRecruitingNot stated2026-08-19NCT06092346
Enhancement of Quality of Work And LifeCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Neurologic Manifestations, Nutritional and Metabolic Diseases, Parkinson disease, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, atactic disorder, non-human animal, basal ganglia disorder, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar ataxia, cerebellar disorder, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inborn mitochondrial metabolism disorder, inherited neurodegenerative disorder, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, parkinsonian disorder, peripheral nervous system disorder, polyneuropathy, synucleinopathyActive, not recruitingNot applicable2026-08-14NCT06573866
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Infant, Newborn, Diseases, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Urogenital Diseases, adrenal gland disorder, adrenocortical insufficiency, autoimmune disease, brain disorder, central nervous system disorder, central nervous system malformation, endocrine system disorder, hereditary disease, hereditary motor and sensory neuropathy, hypothyroidism, ichthyosis, immune system disorder, inborn error of immunity, inborn errors of metabolism, inherited neurodegenerative disorder, keratosis, kidney disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nephrosis, nephrotic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, skin disorder, sphingolipidosis, thyroid gland disorder, urinary system disorderRecruitingNot stated2026-08-04NCT06669949
Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1ACharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1A, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot applicable2026-08-03NCT07726043
A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingPhase 12026-07-29NCT07140614
Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic ObesityAbnormalities, Multiple, Alstrom syndrome, Bardet-Biedl syndrome, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hyperphagia, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Signs and Symptoms, Digestive, brain disorder, central nervous system disorder, central nervous system malformation, eye disorder, hereditary disease, hereditary motor and sensory neuropathy, hypothalamic disorder, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, retinitis pigmentosaRecruitingPhase 42026-06-29NCT07674290
Genotype/Phenotype Correlation of MORC2 MutationsCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, developmental disability, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, psychiatric disorderRecruitingNot stated2026-06-18NCT07038239
Personalized Training for People With Rare Neuromuscular DisordersCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, central nervous system malformation, facioscapulohumeral muscular dystrophy, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot applicable2026-06-18NCT06708468
Ultrasound-Guided Nerve Hydrodissection for Diabetic Lower Limb Entrapment NeuropathyCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nerve compression syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot applicable2026-06-17NCT07625020
Phenotype, Genotype and Biomarkers 2Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Frontotemporal Lobar Degeneration, Nutritional and Metabolic Diseases, TDP-43 proteinopathy, amyotrophic lateral sclerosis, brain disorder, central nervous system disorder, central nervous system malformation, cognitive disorder, dementia, frontotemporal dementia, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, lateral sclerosis, metabolic disease, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, progressive muscular atrophy, proteostasis deficiencies, psychiatric disorder, spinal cord disorder, spinal muscular atrophyActive, not recruitingNot stated2026-06-15NCT04875416
Phenotype, Genotype & Biomarkers in ALS and Related DisordersCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Frontotemporal Lobar Degeneration, Nutritional and Metabolic Diseases, TDP-43 proteinopathy, amyotrophic lateral sclerosis, brain disorder, central nervous system disorder, central nervous system malformation, cognitive disorder, dementia, frontotemporal dementia, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, inherited neurodegenerative disorder, lateral sclerosis, metabolic disease, motor neuron disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, progressive muscular atrophy, proteostasis deficiencies, psychiatric disorder, spinal cord disorder, spinal muscular atrophyActive, not recruitingNot stated2026-06-15NCT02327845
Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1A, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingPhase 1 / Phase 22026-05-26NCT06328712
Physical Activity Level at Home in CMT1A Patients: Wearable Sensor AssessmentAmbulation Difficulty, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Mobility Limitation, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyNot yet recruitingNot stated2026-05-22NCT07591779
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic VolunteersCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, Pathologic Processes, Pathological Conditions, Signs and Symptoms, central nervous system disorder, central nervous system malformation, disease, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, spinal cord disorder, spinal muscular atrophyRecruitingNot applicable2026-05-19NCT07321977
Inherited Retinal Degenerative Disease RegistryAbnormalities, Multiple, Bardet-Biedl syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Disease Attributes, Dyslipidemias, Ear Diseases, Eye Diseases, Hereditary, Goldmann-Favre syndrome, Hearing Loss, Sensorineural, Juvenile Macular Degeneration, Kearns-Sayre syndrome, Leber congenital amaurosis, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neurologic Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Rod-Cone Dystrophy, Sensation Disorders, Signs and Symptoms, Stargardt disease, Usher syndrome, X-linked disease, abetalipoproteinemia, achromatopsia, achromatopsia 3, adult Refsum disease, blindness (disorder), brain disorder, cardiomyopathy, cardiovascular disorder, central areolar choroidal dystrophy, central nervous system disorder, central nervous system malformation, choroideremia, color vision disorder, cone dystrophy, cone-rod dystrophy, congenital stationary night blindness, cranial nerve neuropathy, enhanced S-cone syndrome, eye disorder, fundus albipunctatus, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, hereditary motor and sensory neuropathy, hypobetalipoproteinemia, hypolipoproteinemia, hypothalamic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inherited neurodegenerative disorder, inherited retinal dystrophy, juvenile neuronal ceroid lipofuscinosis, lysosomal lipid storage disorder, macular degeneration, metabolic disease, muscle tissue disorder, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, ophthalmoplegia, optic choroid disorder, ornithine aminotransferase deficiency, otorhinolaryngologic disease, palsy, peripheral nervous system disorder, polyneuropathy, progressive external ophthalmoplegia, retinal degeneration, retinal disorder, retinitis pigmentosa, retinitis punctata albescens, retinoschisis, uveal disorder, vision disorder, vitelliform macular dystrophyRecruitingNot stated2026-05-19NCT02435940
TREMOR IN CHARCOT-MARIE-TOOTHCharcot-Marie-Tooth disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot stated2026-05-06NCT07570459
AUTONOMOUS DISORDERS IN CMTCharcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1A, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, central nervous system malformation, hereditary disease, hereditary motor and sensory neuropathy, inherited neurodegenerative disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathyRecruitingNot stated2026-05-06NCT07570446