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9 studies found for:    "intranuclear rod myopathy" OR "Myopathies, Structural, Congenital"
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Rank Status Study
1 Recruiting Myotubular Myopathy Genetic Testing Study
Condition: Myotubular Myopathy
Intervention: Other: Genetic Testing
2 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
3 Recruiting Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Condition: Myotubular Myopathy
Intervention:
4 Completed Myotubular Myopathy Event Study
Condition: X-linked Myotubular Myopathy
Intervention:
5 Active, not recruiting A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
Condition: X-linked Myotubular Myopathy
Intervention:
6 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
7 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:
8 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed);   Dystroglycanopathy;   Congenital Fiber Type Disproportion;   Rigid Spine Muscular Dystrophy;   Congenital Myopathy (Including Unspecified/Undiagnosed);   Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy);   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   LAMA2-CMD/Merosin Deficient/MDC1A;   Walker-Warburg Syndrome;   Muscle-Eye-Brain Disease;   Fukuyama/Fukutin Related Muscular Dystrophy;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   LMNA-CMD/Lamin A/C/Laminopathy;   SEPN1-Related Myopathy;   Bethlem Myopathy;   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 Myopathy;   Reducing Body Myopathy;   Spheroid Body Myopathy;   LGMD1B (LMNA);   LGMD1E (DES);   LGMD2G (TCAP);   LGMD2H (TRIM32);   LGMD2I (FKRP);   LGMD2J (TTN);   LGMD2K (POMT1);   LGMD2M (FKTN);   LGMD2N (POMT2);   LGMD2O (POMGnT1);   LGMD2P (DAG1);   LGMD2Q (PLEC1);   LGMD2R (DES);   LGMD2S (TRAPPC11);   LGMD2T (GMPPB);   LGMD2U (ISPD);   LGMD2V (GAA);   Ullrich Congenital Muscular Dystrophy;   Titinopathy;   Choline Kinase B Receptor;   Emery-Dreifuss Muscular Dystrophy;   RYR1 Related Myopathy;   SYNE1/Nesprin Related Muscular Dystrophy;   Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap);   Congenital Myasthenic Syndrome;   Escobar Syndrome;   Myofibrillar Myopathy;   Malignant Hyperthermia;   Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN);   Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1);   Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)
Intervention:
9 Unknown  Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo

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