Search clinical trials for: Congenital myopathy

Total 9430 results

Clinic for Special Children

Recruiting

WiTNNess - TNNT1 Myopathy Natural History Study (WiTNNess)

Myopathy | Myopathy; Hereditary | Myopathies, Nemaline | TNNT1-associated Myopathy | Infantile-onset Nemaline Rod Myopathy | Myopathy, Rod | Amish Nemaline Myopathy | Nemaline Myopathy 5 | NEM5 | Genetic Muscle Disease | Recessive Hereditary Disorder (Autosomal) | ANM

United States
National Institute of Nursing Research (NINR)

Not yet recruiting

A Natural History Study of RYR1-Related Disorders

Ryanodine Receptor 1-Related Myopathy | Ryanodine Receptor 1 Related Disorders

United States
Radboud University Medical Center
UMC Utrecht

Not yet recruiting

The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. (READYCOM)

Centronuclear Myopathy | Nemaline Myopathy | Central Core Disease | Multi-Minicore Disease

Netherlands
National Human Genome Research Institute (NHGRI)

Recruiting

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Metabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditions

United States
Assiut University

Not yet recruiting

Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases

Myositis | Congenital Myopathy | Acquired Myopathy
LMU Klinikum
University of Pisa; German Federal Ministry of Education and Research; European...

Recruiting

Global Registry and Natural History Study for Mitochondrial Disorders

Mitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEO

Austria, Germany, Italy
Institut de Myologie, France

Recruiting

Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders (Exo-NMD1)

Muscular Dystrophies | Mitochondrial Myopathies | Glycogen Storage Disease | Idiopathic Inflammatory Myopathies | Congenital Myopathy

France
Institut de Myologie, France

Recruiting

Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders (Exo-KGO1)

Muscular Dystrophies | Mitochondrial Myopathies | Glycogen Storage Disease | Idiopathic Inflammatory Myopathies | Congenital Myopathy

France
James Dowling
Canadian Institutes of Health Research (CIHR); Cures Within Reach; The Joshua... and other collaborators

Recruiting

Tamoxifen Therapy for Myotubular Myopathy (TAM4MTM)

X Linked Myotubular Myopathy

United Kingdom, Canada, United States
Newcastle-upon-Tyne Hospitals NHS Trust

Recruiting

Myotubular and Centronuclear Myopathy Patient Registry

X-linked Myotubular Myopathy | Centronuclear Myopathy | Myotubular Myopathy | Myotubular Myopathy 1 | Myotubular (Centronuclear) Myopathy | Centronuclear Myopathy, X-Linked

United Kingdom
Newcastle-upon-Tyne Hospitals NHS Trust

Recruiting

Global Registry for COL6-related Dystrophies

Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy 1, Digenic, Col6A1/Col6A2 | Ullrich Congenital Muscular Dystrophy 1, Autosomal Recessive | Ullrich Congenital Muscular Dystrophy 1, Autosomal Dominant | Bethlem Myopathy 1, Autosomal Recessive | UCMD | BTHLM1

United Kingdom
Translational Research Center for Medical Innovation...

Recruiting

International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases

Neutral Lipid Storage Disease

China, United States, France, Austria, Germany, Italy, Japan, Netherlands, United Kingdom
Myotonic Dystrophy Foundation

Recruiting

Myotonic Dystrophy Family Registry (MDFR)

Myotonic Dystrophy | Myotonic Dystrophy 1 | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Steinert Disease | Dystrophia Myotonica 1 | Myotonic Dystrophy 2 | Dystrophia Myotonica | Dystrophia Myotonica 2 | Myotonia Dystrophica | Myotonic Dystrophy, Congenital | Myotonic... and other conditions

United States
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
National Institute of Neurological Disorders and...

Recruiting

Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Muscular Dystrophies | Inherited Neuromuscular Conditions | Inherited Neuropathies | Muscle Myopathies | Hereditary Spastic Paraplegias

United States
Cure CMD

Recruiting

Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS)

Emery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditions

United States
Boston Children's Hospital
Muscular Dystrophy Association

Recruiting

Molecular and Genetic Studies of Congenital Myopathies

Centronuclear Myopathy | Myotubular Myopathy | Nemaline Myopathy | Central Core Disease | Congenital Fiber Type Disproportion | Multiminicore Disease | Rigid Spine Muscular Dystrophy | Undefined Congenital Myopathy

United States
University of Rochester
National Institute of Neurological Disorders and Stroke (NINDS)

Recruiting

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Muscular Dystrophy | Myotonic Dystrophy Type 2 | Myotonic Dystrophy Type 1 | Myotonic Dystrophy | Facioscapulohumeral Muscular Dystrophy | Steinert's Disease | Congenital Myotonic Dystrophy | PROMM (Proximal Myotonic Myopathy) | Myotonic Muscular Dystrophy

United States
Astellas Gene Therapies

Active, not recruiting

Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO)

X-Linked Myotubular Myopathy

United States, Canada, France, Germany
Radboud University Medical Center

Completed

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

MDC1A | SELENON-related Myopathy

Netherlands
Dynacure

Terminated

Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies (Unite-CNM)

Centronuclear Myopathy

France, Netherlands, United Kingdom, Belgium, Denmark, Germany
Vastra Gotaland Region

Enrolling by invitation

Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment (COMPIS)

Musculoskeletal Diseases | Neuromuscular Diseases | Centronuclear Myopathy | Nemaline Myopathy | Congenital Myopathy | Myosin Storage Myopathy

Sweden
Institut de Myologie, France
Dynacure

Completed

Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies (NatHis-CNM)

Centronuclear Myopathy

France, Belgium, Germany, Italy, Spain
Holland Bloorview Kids Rehabilitation Hospital
Children's Hospital of Eastern Ontario

Completed

Bullying in Youth With Muscular Dystrophy and Congenital Myopathies

Muscular Dystrophies | Congenital Myopathy

Canada
Astellas Gene Therapies

Completed

A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

X-linked Myotubular Myopathy

United States, France, United Kingdom, Canada, Germany
Astellas Gene Therapies

Completed

A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Males With X-linked Myotubular Myopathy (XLMTM)

United States, United Kingdom
Dynacure

Withdrawn

Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies (DyNaMic)

Centronuclear Myopathy

Germany, France
Dynacure

Withdrawn

Natural History Study of Patients With Centronuclear Myopathies (NatHis-CNM)

Centronuclear Myopathy
Radboud University Medical Center

Completed

Inspiratory Muscle Training in Nemaline Myopathy (NEMTRAIN)

Inspiratory Muscle Training | Nemaline Myopathy

Netherlands
University of Florida
Audentes Therapeutics

Completed

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

X-linked Myotubular Myopathy

United States
Jose Alberola-Rubio

Completed

Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain (SEMG)

Pelvic Pain | Pelvic Floor Disorders | Pelvic Pain Syndrome | Electromyography | EMG Syndrome | EMG: Myopathy | ElectroPhys: Myopathy

Spain
National Institute of Nursing Research (NINR)

Completed

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Neuromuscular Disease

United States
Radboud University Medical Center

Unknown

Muscle Relaxation in Myopathies With Positive Muscle Phenomena

Myotonic Dystrophy Type 2 | McArdle Disease | Nemaline Myopathy Type 6
Translational Research Center for Medical Innovation...

Terminated

Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M

Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV) | Neutral Lipid Storage Disease With Myopathy (NLSD-M)

Italy, Japan
Rigshospitalet, Denmark

Active, not recruiting

Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Congenital Myopathy | Inherited Muscle Diseases | RYR1-myopathy

Denmark
Valerion Therapeutics, LLC
Institut de Myologie, France; Genethon

Completed

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) (MTM)

Myotubular Myopathy

France, Belgium, United States, Canada, Germany, Italy, Spain
Cure CMD
University of Michigan; Congenital Muscle Disease International Registr

Completed

Myotubular Myopathy Event Study (MTMES)

X-linked Myotubular Myopathy

United States
Cure CMD
University of Chicago; Boston Children's Hospital; Valerion Therapeutics, LLC; Congenital...

Completed

Myotubular Myopathy Genetic Testing Study

Myotubular Myopathy

United States
University Hospital, Lille

Unknown

Muscle Oxygenation in Effort in Neuromuscular Diseases (OXYNEMU)

Neuromuscular Diseases

France
Istituto Ortopedico Rizzoli

Completed

Low Protein Diet in Patients With Collagen VI Related Myopathies (LPD)

Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy

Italy
Ludwig-Maximilians - University of Munich

Completed

Natural History in CCFDN and IBM Syndromes

Inclusion Body Myositis, Sporadic | Inclusion Body Myopathy, Autosomal-recessive | Inclusion Body Myopathy, Autosomal-dominant | Congenital Cataracts, Facial Dysmorphism, And Neuropathy

Germany
Rigshospitalet, Denmark

Completed

Aerobic Training in Patients With Congenital Myopathies

Congenital Myopathy

Denmark
Hadassah Medical Organization

Unknown

Treatment of TNNT1-Myopathy With L-Tyrosine.

Nemaline Myopathy

Israel
Maastricht University Medical Center

Completed

The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) (NLSDM)

Neutral Lipid Storage Disease

Netherlands
Children's Healthcare of Atlanta

Terminated

Hypertrophic Myopathy in Children

Congenital Disorders

United States
University of Sao Paulo

Not yet recruiting

Interventions to Control Hypersensitivity Pain in Teeth With Insisive Molar Hypomineralization (LBIARHMI)

Molar Incisor Hypomineralization
Stanford University
American Heart Association

Not yet recruiting

Efficacy of Targeted Medical Therapy in Angina and Nonobstructive Coronary Arteries (MVP-ANOCA)

Angina Pectoris | Microvascular Angina | Vasospastic Angina | Myocardial Bridge of Coronary Artery

United States
Enyo Pharma

Not yet recruiting

Vonafexor ALPort Syndrome Efficacy & Safety TRIAl-1 (ALPESTRIA-1) (ALPESTRIA-1)

Alport Syndrome

Spain, United States, France, Germany
Simon Annaheim
University Children's Hospital, Zurich

Recruiting

Assessment of an Innovative Air Mattress On Critically Ill Infants (Prepicare)

Skin Abnormalities | Skin; Injury, Superficial | Skin; Ulcer, Decubitus

Switzerland
University of Texas Southwestern Medical Center
National Institute on Disability, Independent Living, and Rehabilitation...

Not yet recruiting

Monitoring System for Cranial Orthoses

Plagiocephaly | Brachycephaly | Deformational Plagiocephaly | Deformational Posterior Plagiocephaly

Search clinical trials for: Congenital myopathy

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