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83 studies found for:    Congenital Myopathy
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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:

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Study has passed its completion date and status has not been verified in more than two years.