Clinical Trials on GNE Myopathy

Total 1120 results

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
National Human Genome Research Institute (NHGRI)
Therapeutics for Rare and Neglected Diseases (TRND)

Recruiting

A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases

GNE Myopathy | GNE Related Diseases

United States
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
Nobelpharma

Completed

Efficacy Confirmation Study of NPC-09

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

Japan
Ultragenyx Pharmaceutical Inc

Completed

An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy

GNE Myopathy | Hereditary Inclusion Body Myopathy (HIBM)

United States, Israel
National Human Genome Research Institute (NHGRI)
National Center for Advancing Translational Sciences (NCATS); Therapeutics...

Completed

Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)

GNE Myopathy | Hereditary Inclusion Body Myopathy (HIBM)

United States
Newcastle University

Unknown

International GNE Myopathy Patient Registry

Hereditary Inclusion Body Myopathy | GNE Myopathy

United Kingdom
Ultragenyx Pharmaceutical Inc

Completed

A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (GNE Myopathy)

Hereditary Inclusion Body Myopathy | GNE Myopathy

United States, Israel
National Human Genome Research Institute (NHGRI)
National Center for Advancing Translational Sciences (NCATS)

Completed

An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy

GNE Myopathy

United States
Leadiant Biosciences, Inc.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and other collaborators

Active, not recruiting

Multi-Center Study of ManNAc for GNE Myopathy (MAGiNE)

GNE Myopathy

United States
Rigshospitalet, Denmark

Unknown

Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS) (CICS)

Recessive Gene Myopathies

Denmark
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
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
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
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
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
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
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
Assiut University

Not yet recruiting

Magnetic Resonance Imaging and Ultrasonography in Evaluation of Muscle Diseases

Myositis | Congenital Myopathy | Acquired Myopathy
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
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
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
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
Texas Tech University Health Sciences Center

Recruiting

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

Myopathy; Primary

United States
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
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
Rigshospitalet, Denmark

Completed

Aerobic Training in Patients With Congenital Myopathies

Congenital Myopathy

Denmark
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
Ruth Salim

Unknown

MR in Patients With Collagen VI Related Myopathies

Bethlem Myopathy | Ullrich Disease

Denmark
Universidade Estadual do Oeste do Paraná

Completed

Correlation Between Spirometry and Functional Independence in Adult Post-ICU Patients

Intensive Care (ICU) Myopathy | Functional Independence
Hartford Hospital

Unknown

CoEnzyme Q10 in Statin Myopathy

Statin Myopathy

United States
Hartford Hospital
University of Connecticut

Unknown

NIRS to Diagnose SAMS

Statin Adverse Reaction | Skeletal Myopathy

United States
Astellas Pharma Inc

Active, not recruiting

A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy (MOUNTAINSIDE)

Primary Mitochondrial Myopathy

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
University of Washington
Grifols Biologicals, LLC

Withdrawn

Monotherapy IVIG Gamunex-C for HMG-CoA Reductase Auto-Antibody Positive Necrotizing Myopathy Treatment (The MIGHT Trial)

Immune-Mediated Necrotizing Myopathy

United States
National Institute of Nursing Research (NINR)

Completed

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Neuromuscular Disease

United States
Central Hospital, Nancy, France

Unknown

Juvenile Autoimmune Necrotizing Myopathies (MYONECPED)

Immune-Mediated Necrotizing Myopathy

France

Clinical Trials on GNE Myopathy

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