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33 studies found for:    Congenital Myopathy

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Congenital Myopathy (33 records)
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Rank Status Study
1 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:
2 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:
3 Recruiting Myotubular Myopathy Genetic Testing Study
Condition: Myotubular Myopathy
Intervention: Other: Genetic Testing
4 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
5 Active, not recruiting Low Protein Diet in Patients With Collagen VI Related Myopathies
Conditions: Bethlem Myopathy;   Ullrich Congenital Muscular Dystrophy
Intervention: Other: Low protein diet
6 Recruiting Myotubular Myopathy Event Study
Condition: X-linked Myotubular Myopathy
Intervention:
7 Terminated Hypertrophic Myopathy in Children
Condition: Congenital Disorders
Intervention:
8 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
9 Completed Characteristics of Nondystrophic Myotonias
Conditions: Nondystrophic Myotonias;   Myotonia Congenita;   Myotonic Disorders
Intervention:
10 Recruiting A Study to Test Lung Stretch Therapy (Hyperinsufflation) to Slow the Rate of Decline in Children With Collagen VI Muscular Dystrophy
Conditions: Congenital Muscular Dystrophy;   Collagen VI Deficiency
Intervention: Other: Hyperinsufflation therapy
11 Not yet recruiting Pharmacokinetic Study With Assessment of Safety and Tolerability of Omigapil in Children and Adolescents With Congenital Muscular Dystrophy
Condition: Congenital Muscular Dystrophy
Intervention: Drug: Omigapil
12 Terminated 3D Echocardiography Managing Infantile Pompe's Disease
Condition: Congenital Disorders
Intervention:
13 Recruiting Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Conditions: Muscular Dystrophies;   Muscle Myopathies;   Hereditary Spastic Paraplegias;   Inherited Neuropathies;   Inherited Neuromuscular Conditions
Intervention:
14 Enrolling by invitation The Natural History of Congenital Trigger Thumbs
Conditions: Congenital Trigger Thumb;   Tenosynovitis
Intervention:
15 Recruiting Flu Vaccine Study in Neuromuscular Patients 2011
Conditions: Duchenne Muscular Dystrophy;   Spinal Muscular Atrophy;   Congenital Muscular Dystrophy
Intervention: Biological: 2011-2012 seasonal flu vaccine
16 Recruiting The Savella Pregnancy Registry
Condition: Fibromyalgia
Intervention:
17 Completed Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders
Conditions: Paralysis, Hyperkalemic Periodic;   Hypokalemic Periodic Paralysis;   Paramyotonia Congenita
Intervention: Drug: dichlorphenamide
18 Recruiting Clinical Trial Readiness for the Dystroglycanopathies
Condition: Muscular Dystrophy
Intervention:
19 Recruiting Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels;   Procedure: Physiological Stress Test;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: Observational Gait Analysis;   Other: Mental Health Interview
20 Recruiting Hematopoietic Stem Cell Therapy for Patients With Refractory Myasthenia Gravis
Condition: Myasthenia Gravis
Intervention: Biological: Hematopoietic Stem Cell Transplantation
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† Indicates status has not been verified in more than two years