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79 studies found for:    Congenital Myopathy
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21 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
22 Recruiting Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Condition: Myotubular Myopathy
23 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
24 Recruiting A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
Condition: X-linked Myotubular Myopathy
25 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
26 Recruiting Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Conditions: Muscular Dystrophies;   Muscle Myopathies;   Hereditary Spastic Paraplegias;   Inherited Neuropathies;   Inherited Neuromuscular Conditions
27 Enrolling by invitation Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo
28 Completed A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy
Condition: Congenital Muscular Dystrophy
Intervention: Other: Hyperinsufflation therapy
29 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
30 Recruiting International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Condition: Neutral Lipid Storage Disease
31 Enrolling by invitation Efficacy of Sialic Acid GNE Related Thrombocytopenia
Condition: Thrombocytopenia
Intervention: Drug: Sialic Acid-Extended Release
32 Active, not recruiting The Natural History of Congenital Trigger Thumbs
Conditions: Congenital Trigger Thumb;   Tenosynovitis
33 Terminated 3D Echocardiography Managing Infantile Pompe's Disease
Condition: Congenital Disorders
34 Available 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
Conditions: Lambert-Eaton Myasthenic Syndrome (LEMS);   Congenital Myasthenia (CM)
Intervention: Drug: 3,4-diaminopyridine
35 Recruiting Study of Ranolazine in Myotonia Congenita and Paramyotonia Congenita
Conditions: Myotonia Congenita (Enrollment Complete);   Paramyotonia Congenita
Intervention: Drug: Ranolazine
36 Recruiting Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
Conditions: Cerebral Palsy;   Neuromuscular Disease
37 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
38 Completed Relations Between Myotonia and Fitness
Condition: Congenital Myotonia
Intervention: Other: Training
39 Completed MRI and Muscle Involvement in Patients With Mutations in GMPPB
Condition: Limb-girdle Muscular Dystrophy
40 Recruiting Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
Condition: Myotonic Dystrophy 1
Intervention: Drug: Tideglusib

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Indicates status has not been verified in more than two years