Clinical Trials on Myopathy Congenital

Total 9135 results

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
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
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
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
Assiut University

Not yet recruiting

Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases

Myositis | Congenital Myopathy | Acquired Myopathy
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
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
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
University of Florida
Audentes Therapeutics

Completed

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

X-linked Myotubular Myopathy

United States
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
Rigshospitalet, Denmark

Completed

Aerobic Training in Patients With Congenital Myopathies

Congenital Myopathy

Denmark
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
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
Cure CMD
University of Michigan; Congenital Muscle Disease International Registr

Completed

Myotubular Myopathy Event Study (MTMES)

X-linked Myotubular Myopathy

United States
National Institute of Nursing Research (NINR)

Completed

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Neuromuscular Disease

United States
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
Dynacure

Withdrawn

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

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

Completed

Myotubular Myopathy Genetic Testing Study

Myotubular Myopathy

United States
Dynacure

Withdrawn

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

Centronuclear Myopathy

Germany, France
Hadassah Medical Organization

Unknown

Treatment of TNNT1-Myopathy With L-Tyrosine.

Nemaline Myopathy

Israel
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
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
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
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
Istituto Ortopedico Rizzoli

Completed

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

Bethlem Myopathy | Ullrich Congenital Muscular Dystrophy

Italy
Ultragenyx Pharmaceutical Inc

Terminated

A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment

Hereditary Inclusion Body Myopathy | GNE Myopathy | Inclusion Body Myopathy 2 | Distal Myopathy With Rimmed Vacuoles | Distal Myopathy, Nonaka Type | Quadriceps Sparing Myopathy

Canada, United States, Bulgaria
Ultragenyx Pharmaceutical Inc

Terminated

Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

Hereditary Inclusion Body Myopathy | GNE Myopathy | Distal Myopathy With Rimmed Vacuoles | Distal Myopathy, Nonaka Type | Quadriceps Sparing Myopathy

United States, Canada, United Kingdom, Israel, Italy, Bulgaria, France
Ultragenyx Pharmaceutical Inc

Completed

Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) (GNEM)

Hereditary Inclusion Body Myopathy | GNE Myopathy | Distal Myopathy With Rimmed Vacuoles | Distal Myopathy, Nonaka Type

United States, Canada, United Kingdom, Israel, Italy, Bulgaria, France
Children's Healthcare of Atlanta

Terminated

Hypertrophic Myopathy in Children

Congenital Disorders

United States
Nobelpharma

Completed

Efficacy Confirmation Study of NPC-09

GNE Myopathy | Nonaka Disease | Distal Myopathy With Rimmed Vacuoles (DMRV) | Hereditary Inclusion Body Myopathy (hIBM)

Japan
Ra Pharmaceuticals

Terminated

Safety and Efficacy Study of Zilucoplan in Subjects With Immune-Mediated Necrotizing Myopathy

Immune Mediated Necrotizing Myopathy

United States, Netherlands, France, United Kingdom
Ultragenyx Pharmaceutical Inc
Newcastle University

Completed

GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)

Hereditary Inclusion Body Myopathy | GNE Myopathy | Nonaka Disease | Quadriceps Sparing Myopathy (QSM) | Distal Myopathy With Rimmed Vacuoles (DMRV)

United States, Bulgaria, Canada, France, United Kingdom
Texas Tech University Health Sciences Center

Recruiting

Annatto-derived GG for Statin-associated Myopathy (GG-statin)

Myopathy; Primary

United States
Radboud University Medical Center

Completed

Inspiratory Muscle Training in Nemaline Myopathy (NEMTRAIN)

Inspiratory Muscle Training | Nemaline Myopathy

Netherlands
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
Radboud University Medical Center

Completed

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

MDC1A | SELENON-related Myopathy

Netherlands
Reneo Pharma Ltd

Terminated

An Open Label, Long Term Safety Study of REN001 in Primary Mitochondrial Myopathy Patients (Stride Ahead)

Primary Mitochondrial Myopathy

Spain, Australia, Belgium, Denmark, Canada, United Kingdom, France, Germany, Hungary, Italy, Netherlands, New Zealand
Lawson Health Research Institute

Completed

Evaluation of Patients With Statin Myopathy Using an N of 1 Trial Design

Statin Myopathy

Canada
The Emmes Company, LLC
United Mitochondrial Disease Foundation; PolG Foundation Mito Australia

Recruiting

Mitochondrial Video Assessment Source Material Study

PolG, Primary Mitochondrial Myopathy

United States
Reneo Pharma Ltd

Completed

An Efficacy and Safety Study of 24 Week Treatment With Mavodelpar (REN001) in Primary Mitochondrial Myopathy Patients (STRIDE)

Primary Mitochondrial Myopathy

United States, Spain, Australia, France, United Kingdom, New Zealand, Denmark, Norway, Czechia, Belgium, Canada, Germany, Hungary, Italy, Netherlands
Stealth BioTherapeutics Inc.

Terminated

A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension (MMPOWER-3)

Primary Mitochondrial Myopathy

United States, Germany, Canada, Italy, United Kingdom, Denmark, Hungary
Reneo Pharma Ltd

Terminated

A Study of the Safety of REN001 in Patients With Primary Mitochondrial Myopathy

Primary Mitochondrial Myopathy

United Kingdom
Armgo Pharma, Inc.
National Institute of Nursing Research (NINR); National Institute of Neurological... and other collaborators

Completed

S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM)

RYR-1 Myopathy

United States
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
Rockefeller University

Terminated

Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment

Myopathy (Statin Associated)

United States
Oregon Health and Science University

Completed

Neurosciences-Intensive Care Unit Electrical Stimulation

Intensive Care (ICU) Myopathy

United States
University of Melbourne
Melbourne Health; National University Hospital, Singapore; Flinders Medical Centre and other collaborators

Completed

Physical Function in Critical Care (PaciFIC) (PaciFIC)

Intensive Care (ICU) Myopathy

Singapore, Australia, Brazil
Sándor Beniczky
University of Aarhus; Danish Council for Independent Research; Søster og Verner...

Completed

Understanding the Mechanisms of Critical Illness Myopathy by Use of a Novel Electrophysiological Method - MVRCs

Critical Illness Myopathy | Myopathy Critical Illness

Denmark

Clinical Trials on Myopathy Congenital

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Medical Conditions

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CROs in Azerbaijan

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Rare Diseases

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