59 studies found for:    Congenital Myopathy
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Rank Status Study
21 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
22 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
Intervention:
23 Enrolling by invitation Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo
24 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:
25 Recruiting A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy
Condition: Congenital Muscular Dystrophy
Intervention: Other: Hyperinsufflation therapy
26 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
27 Active, not recruiting The Natural History of Congenital Trigger Thumbs
Conditions: Congenital Trigger Thumb;   Tenosynovitis
Intervention:
28 Terminated 3D Echocardiography Managing Infantile Pompe's Disease
Condition: Congenital Disorders
Intervention:
29 Recruiting Study of Ranolazine in Myotonia Congenita and Paramyotonia Congenita
Conditions: Myotonia Congenita;   Paramyotonia Congenita
Intervention: Drug: Ranolazine
30 Recruiting Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
Conditions: Cerebral Palsy;   Neuromuscular Disease
Intervention:
31 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
32 Completed Relations Between Myotonia and Fitness
Condition: Congenital Myotonia
Intervention: Other: Training
33 Active, not recruiting MRI and Muscle Involvement in Patients With Mutations in GMPPB
Condition: Limb-girdle Muscular Dystrophy
Intervention:
34 Completed Mexiletine and Non Dystrophic Myotonias
Conditions: Non-dystrophic Myotonias;   Paramyotonia Congenita;   Myotonia Congenita
Interventions: Drug: Mexiletine;   Drug: placebo
35 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
36 Recruiting The Savella Pregnancy Registry
Condition: Fibromyalgia
Intervention:
37 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
38 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
39 Recruiting Clinical Trial Readiness for the Dystroglycanopathies
Condition: Muscular Dystrophy
Intervention:
40 Not yet recruiting Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy
Conditions: Cerebral Palsy, Congenital;   Muscle Spasticity
Intervention: Device: WalkAide

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Indicates status has not been verified in more than two years