Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...
83 studies found for:    Congenital Myopathy
Show Display Options
RSS Create an RSS feed from your search for:
Congenital Myopathy
Need help? See RSS Feeds
Choose a feed type:
Show studies that were first received in the last 14 daysShow studies that were first received in the last 14 days
Show studies added or modified in the last 14 daysShow studies that were added or modified in the last 14 days
Rank Status Study
1 Completed Aerobic Training in Patients With Congenital Myopathies
Condition: Congenital Myopathy
Intervention: Other: Exercise on a cycle-ergometer
2 Recruiting Molecular and Genetic Studies of Congenital Myopathies
Conditions: Central Core Disease;   Centronuclear Myopathy;   Congenital Fiber Type Disproportion;   Multiminicore Disease;   Myotubular Myopathy;   Nemaline Myopathy;   Rigid Spine Muscular Dystrophy;   Undefined Congenital Myopathy
Intervention:
3 Recruiting Antioxidant Therapy in RYR1-Related Congenital Myopathy
Condition: Neuromuscular Disease
Intervention: Drug: N-acetylcysteine
4 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed);   Dystroglycanopathy;   Congenital Fiber Type Disproportion;   Rigid Spine Muscular Dystrophy;   Congenital Myopathy (Including Unspecified/Undiagnosed);   Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy);   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   LAMA2-CMD/Merosin Deficient/MDC1A;   Walker-Warburg Syndrome;   Muscle-Eye-Brain Disease;   Fukuyama/Fukutin Related Muscular Dystrophy;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   LMNA-CMD/Lamin A/C/Laminopathy;   SEPN1-Related Myopathy;   Bethlem Myopathy;   Actin Aggregation Myopathy;   Cap Disease;   Central Core Disease;   Centronuclear Myopathy;   Core Rod Myopathy;   Hyaline Body Myopathy;   Multiminicore Myopathy;   Myotubular Myopathy;   Nemaline Myopathy;   Tubular Aggregate Myopathy;   Zebra Body Myopathy;   Reducing Body Myopathy;   Spheroid Body Myopathy;   LGMD1B (LMNA);   LGMD1E (DES);   LGMD2G (TCAP);   LGMD2H (TRIM32);   LGMD2I (FKRP);   LGMD2J (TTN);   LGMD2K (POMT1);   LGMD2M (FKTN);   LGMD2N (POMT2);   LGMD2O (POMGnT1);   LGMD2P (DAG1);   LGMD2Q (PLEC1);   LGMD2R (DES);   LGMD2S (TRAPPC11);   LGMD2T (GMPPB);   LGMD2U (ISPD);   LGMD2V (GAA);   Ullrich Congenital Muscular Dystrophy;   Titinopathy;   Choline Kinase B Receptor;   Emery-Dreifuss Muscular Dystrophy;   RYR1 Related Myopathy;   SYNE1/Nesprin Related Muscular Dystrophy;   Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap);   Congenital Myasthenic Syndrome;   Escobar Syndrome;   Myofibrillar Myopathy;   Malignant Hyperthermia;   Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN);   Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1);   Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)
Intervention:
5 Recruiting Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases
Conditions: Inherited Muscle Diseases;   Congenital Myopathy;   RYR1-myopathy
Intervention: Other: MRI and Muscle Dynamometer
6 Recruiting Muscle Oxygenation in Effort in Neuromuscular Diseases
Condition: Neuromuscular Diseases
Intervention: Other: muscle oxygenation
7 Recruiting Myotubular Myopathy Genetic Testing Study
Condition: Myotubular Myopathy
Intervention: Other: Genetic Testing
8 Terminated Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
Conditions: Duchenne Muscular Dystrophy;   Amyotrophic Lateral Sclerosis;   Neuromuscular Diseases
Interventions: Device: mechanical insufflation - exsufflation;   Device: Standard respiratory physiotherapy
9 Completed Low Protein Diet in Patients With Collagen VI Related Myopathies
Conditions: Bethlem Myopathy;   Ullrich Congenital Muscular Dystrophy
Intervention: Other: Low protein diet
10 Completed Natural History in CCFDN and IBM Syndromes
Conditions: Inclusion Body Myositis, Sporadic;   Inclusion Body Myopathy, Autosomal-recessive;   Inclusion Body Myopathy, Autosomal-dominant;   Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Intervention: Other: Natural History
11 Completed Myotubular Myopathy Event Study
Condition: X-linked Myotubular Myopathy
Intervention:
12 Terminated Hypertrophic Myopathy in Children
Condition: Congenital Disorders
Intervention:
13 Unknown  T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease
Condition: Cardiomyopathy
Intervention: Other: Cardiac magnetic resonance sequence T1 mapping
14 Active, not recruiting Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Condition: X-linked Myotubular Myopathy
Interventions: Other: History and physical;   Other: Tidal breathing;   Other: Maximal respiratory pressures;   Other: Peak cough flow;   Other: Pediatric Evaluation of Disability Inventory;   Other: PedsQL Multidimensional Fatigue Scale;   Other: Review of ventilation requirements
15 Recruiting Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Condition: Myotubular Myopathy
Intervention:
16 Recruiting A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
Condition: Males With X-linked Myotubular Myopathy (XLMTM)
Intervention: Other: Non-interventional, retrospective medical chart review
17 Active, not recruiting A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
Condition: X-linked Myotubular Myopathy
Intervention:
18 Withdrawn LAMA2-related Muscular Dystrophy Brain Study
Condition: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
Intervention:
19 Terminated 3D Echocardiography Managing Infantile Pompe's Disease
Condition: Congenital Disorders
Intervention:
20 Completed Characteristics of Nondystrophic Myotonias
Conditions: Nondystrophic Myotonias;   Myotonia Congenita;   Myotonic Disorders
Intervention:

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Study has passed its completion date and status has not been verified in more than two years.