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78 studies found for:    Congenital Myopathy
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Rank Status Study
21 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
22 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
23 Enrolling by invitation Efficacy of Sialic Acid GNE Related Thrombocytopenia
Condition: Thrombocytopenia
Intervention: Drug: Sialic Acid-Extended Release
24 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
25 Completed MRI and Muscle Involvement in Patients With Mutations in GMPPB
Condition: Limb-girdle Muscular Dystrophy
Intervention:
26 Enrolling by invitation Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo
27 Active, not recruiting The Natural History of Congenital Trigger Thumbs
Conditions: Congenital Trigger Thumb;   Tenosynovitis
Intervention:
28 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
29 Completed A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular Dystrophy
Condition: Congenital Muscular Dystrophy
Intervention: Other: Hyperinsufflation therapy
30 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
31 Recruiting The Savella Pregnancy Registry
Condition: Fibromyalgia
Intervention:
32 Recruiting Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular Dystrophy
Conditions: Cerebral Palsy;   Neuromuscular Disease
Intervention:
33 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
34 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:
35 Recruiting Study of Ranolazine in Myotonia Congenita and Paramyotonia Congenita
Conditions: Myotonia Congenita (Enrollment Complete);   Paramyotonia Congenita
Intervention: Drug: Ranolazine
36 Recruiting Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
Condition: Myotonic Dystrophy 1
Intervention: Drug: Tideglusib
37 Completed Relations Between Myotonia and Fitness
Condition: Congenital Myotonia
Intervention: Other: Training
38 Terminated 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:
39 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:
40 Completed Mexiletine and Non Dystrophic Myotonias
Conditions: Non-dystrophic Myotonias;   Paramyotonia Congenita;   Myotonia Congenita
Interventions: Drug: Mexiletine;   Drug: placebo

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Study has passed its completion date and status has not been verified in more than two years.