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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of SFL-0821 in Adults With FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingPhase 1 / Phase 22026-10-09NCT07798609
Study of SRP-1001 in Adult and Adolescent Participants With Facioscapulohumeral Muscular Dystrophy Type 1Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseEnrolling by invitationPhase 1 / Phase 22026-10-05NCT06131983
A Study to Evaluate RO7204239 in Participants With Facioscapulohumeral Muscular DystrophyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseActive, not recruitingPhase 22026-09-24NCT05548556
Clinical Trial Readiness to Solve Barriers to Drug Development in FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseActive, not recruitingNot stated2026-09-17NCT03458832
Phase 2 Study Evaluating Apitegromab for the Treatment of FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingPhase 22026-09-02NCT07435129
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient RegistryCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingNot stated2026-08-20NCT04001582
A First-in-human Study of EPI-321 in Facioscapulohumeral Muscular DystrophyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseActive, not recruitingPhase 1 / Phase 22026-08-19NCT06907875
Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular DystrophyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseActive, not recruitingNot stated2026-08-05NCT01671865
A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 2, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingPhase 32026-07-27NCT07038200
Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 2, frontometaphyseal dysplasia 2, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular disease, progressive muscular dystrophyActive, not recruitingPhase 22026-07-14NCT06547216
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
Amino Acids and Exercise in FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingNot applicable2026-04-21NCT07543016
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular DiseaseBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Charcot-Marie-Tooth disease, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Infections, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Neoplasms by Site, Neuroinflammatory Diseases, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Picornaviridae infectious disease, RNA Virus Infections, TDP-43 proteinopathy, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, brain disorder, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, centronuclear myopathy, chronic inflammatory demyelinating polyradiculoneuropathy, congenital structural myopathy, demyelinating disease, disorder of glycogen metabolism, enterovirus infectious disease, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inborn mitochondrial myopathy, inclusion body myositis, inherited neurodegenerative disorder, lateral sclerosis, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myelitis, myositis disease, nemaline myopathy, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, orthostatic intolerance, paraneoplastic syndrome, peripheral nervous system disorder, poliomyelitis, polyneuropathy, polyradiculoneuropathy, postpoliomyelitis syndrome, primary dysautonomia, progressive muscular atrophy, proteostasis deficiencies, spinal cord disorder, spinal muscular atrophy, viral infectious diseaseRecruitingNot applicable2026-03-17NCT07478172
Walking ANalysis Interest in Persons wiTh facioscapulohumEral Muscular Dystrophiesfacioscapulohumeral muscular dystrophyRecruitingNot applicable2026-03-03NCT06600308
Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingNot stated2026-02-25NCT06847282
Clenbuterol to Target DUX4 in FSHDCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingPhase 12026-02-25NCT06721299
BetterLife FSHD: A Patient-driven Health and Research PlatformCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, facioscapulohumeral muscular dystrophy 1, facioscapulohumeral muscular dystrophy 2, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingNot stated2026-02-20NCT07409142
Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD)Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseRecruitingPhase 12025-12-08NCT07086521
Biomarker Development for Muscular DystrophiesBecker muscular dystrophy, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Duchenne muscular dystrophy, Muscular Disorders, Atrophic, X-linked disease, facioscapulohumeral muscular dystrophy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular diseaseRecruitingNot stated2025-11-24NCT05019625
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, Myotonic Dystrophy 2, facioscapulohumeral muscular dystrophy, hereditary disease, inherited neurodegenerative disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myotonic dystrophy, myotonic dystrophy type 1, myotonic dystrophy type 2, myotonic syndrome, nervous system disorder, neurodegenerative disease, neuromuscular diseaseRecruitingNot stated2025-10-15NCT00082108
ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot StudyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseActive, not recruitingNot applicable2025-09-25NCT05453461
Imaging and Gait Analysis in FSHD PatientsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Muscular Disorders, Atrophic, facioscapulohumeral muscular dystrophy, hereditary disease, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, nervous system disorder, neuromuscular diseaseEnrolling by invitationNot stated2025-09-10NCT07164937
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular DisordersBrain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Friedreich ataxia, Guillain-Barre syndrome, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Neoplasms by Site, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Post-Infectious Disorders, Spinocerebellar Degenerations, TDP-43 proteinopathy, amyotrophic lateral sclerosis, autoimmune disease, autoimmune disorder of the nervous system, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar disorder, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, disorder of glycogen metabolism, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inclusion body myositis, inherited neurodegenerative disorder, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myositis disease, myotonic dystrophy, myotonic syndrome, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, paraneoplastic syndrome, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy, proteostasis deficiencies, spinal cord disorder, spinal muscular atrophyEnrolling by invitationNot stated2025-09-10NCT06605612
Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic PathologyBody Weight, Charcot-Marie-Tooth disease, Cognition Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, Huntington disease, Lambert-Eaton myasthenic syndrome, Muscular Disorders, Atrophic, Neoplasms by Site, Neurologic Manifestations, Nutritional and Metabolic Diseases, Ocular Motility Disorders, Overweight, Paraneoplastic Syndromes, Nervous System, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Spinocerebellar Ataxias, Spinocerebellar Degenerations, atactic disorder, non-human animal, autoimmune disease, autoimmune disorder of the nervous system, basal ganglia disorder, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar ataxia, cerebellar disorder, choreatic disease, cognitive disorder, cranial nerve neuropathy, dementia, eye disorder, facioscapulohumeral muscular dystrophy, hereditary disease, hereditary motor and sensory neuropathy, hereditary spastic paraplegia, immune system disorder, inherited neurodegenerative disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myotonic dystrophy, myotonic syndrome, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, nutritional disorder, obesity disorder, ophthalmoplegia, overnutrition, palsy, paraneoplastic syndrome, peripheral nervous system disorder, polyneuropathy, psychiatric disorder, spinal cord disorder, tauopathyRecruitingNot applicable2025-08-22NCT07136844
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Friedreich ataxia, Guillain-Barre syndrome, Lambert-Eaton myasthenic syndrome, Lysosomal Storage Diseases, Nervous System, Muscular Disorders, Atrophic, Myotonic Dystrophy 2, Neoplasms by Site, Nutritional and Metabolic Diseases, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Post-Infectious Disorders, Spinocerebellar Degenerations, autoimmune disease, autoimmune disorder of the nervous system, brain disorder, central nervous system disorder, central nervous system malformation, cerebellar disorder, chronic inflammatory demyelinating polyradiculoneuropathy, demyelinating disease, disorder of glycogen metabolism, facioscapulohumeral muscular dystrophy, glycogen storage disease II, hereditary disease, hereditary motor and sensory neuropathy, immune system disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, inclusion body myositis, inherited neurodegenerative disorder, limb-girdle muscular dystrophy, lysosomal storage disease, metabolic disease, motor neuron disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myositis disease, myotonic dystrophy, myotonic syndrome, neoplasm, nervous system disorder, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, paraneoplastic syndrome, peripheral nervous system disorder, polyneuropathy, polyradiculoneuropathy, spinal cord disorder, spinal muscular atrophyEnrolling by invitationNot applicable2025-07-18NCT07072676