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83 studies found for:    Congenital Myopathy
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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: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   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 Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
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.