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78 studies found for:    Congenital Myopathy
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Congenital Myopathy (78 records)
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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 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;   SEPN 1 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:
4 Suspended Antioxidant Therapy in RYR1-Related Congenital Myopathy
Condition: Neuromuscular Disease
Intervention: Drug: N-acetylcysteine
5 Recruiting Myotubular Myopathy Genetic Testing Study
Condition: Myotubular Myopathy
Intervention: Other: Genetic Testing
6 Recruiting Muscle Oxygenation in Effort in Neuromuscular Diseases
Condition: Neuromuscular Diseases
Intervention: Other: muscle oxygenation
7 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
8 Completed Low Protein Diet in Patients With Collagen VI Related Myopathies
Conditions: Bethlem Myopathy;   Ullrich Congenital Muscular Dystrophy
Intervention: Other: Low protein diet
9 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
10 Active, not recruiting Myotubular Myopathy Event Study
Condition: X-linked Myotubular Myopathy
Intervention:
11 Terminated Hypertrophic Myopathy in Children
Condition: Congenital Disorders
Intervention:
12 Recruiting Myotonic Dystrophy Family Registry
Conditions: Myotonic Dystrophy;   Congenital Myotonic Dystrophy;   Myotonic Dystrophy 1;   Myotonic Dystrophy 2;   Dystrophia Myotonica;   Dystrophia Myotonica 1;   Dystrophia Myotonica 2;   Myotonia Dystrophica;   Myotonic Dystrophy, Congenital;   Myotonic Myopathy, Proximal;   PROMM (Proximal Myotonic Myopathy);   Proximal Myotonic Myopathy;   Steinert Disease;   Steinert Myotonic Dystrophy;   Steinert's Disease;   Myotonia Atrophica
Intervention: Other: Patient-entered data
13 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
14 Recruiting Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
Conditions: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV);   Neutral Lipid Storage Disease With Myopathy (NLSD-M)
Intervention: Dietary Supplement: CNT-02
15 Recruiting European Home Mechanical Ventilation Registry
Conditions: Pulmonary Disease, Chronic Obstructive;   Amyotrophic Lateral Sclerosis;   Spinal Cord Injury;   Muscular Dystrophies;   Obesity Hypoventilation Syndrome;   Kyphoscoliosis;   Congenital Central Hypoventilation Syndrome;   Duchenne Muscular Dystrophy;   Myopathies;   Myotonic Dystrophy
Intervention:
16 Recruiting Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Conditions: Myotonic Dystrophy;   Facioscapulohumeral Muscular Dystrophy;   Muscular Dystrophy;   Myotonic Dystrophy Type 1;   Myotonic Dystrophy Type 2;   Congenital Myotonic Dystrophy;   PROMM (Proximal Myotonic Myopathy);   Steinert's Disease;   Myotonic Muscular Dystrophy
Intervention:
17 Completed The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
Condition: Neutral Lipid Storage Disease
Intervention: Drug: Fibrate treatment
18 Recruiting T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease
Condition: Cardiomyopathy
Intervention: Other: Cardiac magnetic resonance sequence T1 mapping
19 Withdrawn LAMA2-related Muscular Dystrophy Brain Study
Condition: LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
Intervention:
20 Completed Characteristics of Nondystrophic Myotonias
Conditions: Nondystrophic Myotonias;   Myotonia Congenita;   Myotonic Disorders
Intervention:

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