56 studies found for:    Congenital Myopathy
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Rank Status Study
21 Enrolling by invitation Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo
22 Recruiting Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Conditions: Muscular Dystrophies;   Muscle Myopathies;   Hereditary Spastic Paraplegias;   Inherited Neuropathies;   Inherited Neuromuscular Conditions
23 Recruiting A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy
Condition: Congenital Muscular Dystrophy
Intervention: Other: Hyperinsufflation therapy
24 Recruiting Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)
Condition: Congenital Muscular Dystrophy
Intervention: Drug: Omigapil
25 Active, not recruiting The Natural History of Congenital Trigger Thumbs
Conditions: Congenital Trigger Thumb;   Tenosynovitis
26 Terminated 3D Echocardiography Managing Infantile Pompe's Disease
Condition: Congenital Disorders
27 Recruiting Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
Conditions: Cerebral Palsy;   Neuromuscular Disease
28 Recruiting Study of Ranolazine in Myotonia Congenita
Condition: Myotonia Congenita
Intervention: Drug: Ranolazine
29 Completed Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment
Conditions: Dyskeratosis Congenita;   Fanconi Anemia;   Myelodysplastic Syndromes;   Pearson Marrow-pancreas Syndrome;   Shwachman-diamond Syndrome
Interventions: Genetic: polymerase chain reaction;   Other: flow cytometry;   Other: immunologic technique;   Procedure: biopsy
30 Completed Relations Between Myotonia and Fitness
Condition: Congenital Myotonia
Intervention: Other: Training
31 Completed Mexiletine and Non Dystrophic Myotonias
Conditions: Non-dystrophic Myotonias;   Paramyotonia Congenita;   Myotonia Congenita
Interventions: Drug: Mexiletine;   Drug: placebo
32 Enrolling by invitation Lamotrigine as Treatment of Myotonia
Conditions: Dystrophia Myotonica Type 1;   Myotonia Congenita;   Paramyotonia Congenita;   Hyperkalemic Periodic Paralysis;   Potassium-Aggravated Myotonia
Interventions: Drug: Lamotrigine;   Drug: Placebo
33 Recruiting The Savella Pregnancy Registry
Condition: Fibromyalgia
34 Unknown  Flu Vaccine Study in Neuromuscular Patients 2011
Conditions: Duchenne Muscular Dystrophy;   Spinal Muscular Atrophy;   Congenital Muscular Dystrophy
Intervention: Biological: 2011-2012 seasonal flu vaccine
35 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
36 Recruiting Clinical Trial Readiness for the Dystroglycanopathies
Condition: Muscular Dystrophy
37 Not yet recruiting Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy
Conditions: Cerebral Palsy, Congenital;   Muscle Spasticity
Intervention: Device: WalkAide
38 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
39 Recruiting DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings
Conditions: Childhood Malignant Ovarian Germ Cell Tumor;   Childhood Malignant Testicular Germ Cell Tumor;   Ovarian Choriocarcinoma;   Ovarian Embryonal Carcinoma;   Ovarian Mixed Germ Cell Tumor;   Ovarian Teratoma;   Ovarian Yolk Sac Tumor;   Testicular Choriocarcinoma;   Testicular Embryonal Carcinoma;   Testicular Seminoma;   Testicular Teratoma;   Testicular Yolk Sac Tumor
Interventions: Other: laboratory biomarker analysis;   Other: questionnaire administration
40 Enrolling by invitation Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
Conditions: Inherited Cardiac Arrythmias;   Long QT Syndrome (LQTS);   Brugada Syndrome (BrS);   Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT);   Early Repolarization Syndrome (ERS);   Arrhythmogenic Cardiomyopathy (AC, ARVD/C);   Hypertrophic Cardiomyopathy (HCM);   Dilated Cardiomyopathy (DCM);   Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy);   Normal Control Subjects

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Indicates status has not been verified in more than two years