1587 studies found for:    "Muscular Diseases"
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Rank Status Study
1 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN 1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   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 Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
Intervention:
2 Recruiting Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease
Conditions: Hereditary Inclusion Body Myopathy;   GNE Myopathy;   Nonaka Disease;   Quadriceps Sparing Myopathy (QSM);   Distal Myopathy With Rimmed Vacuoles (DMRV)
Intervention:
3 Recruiting Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Conditions: Hereditary Inclusion Body Myopathy;   Distal Myopathy With Rimmed Vacuoles;   Distal Myopathy, Nonaka Type
Interventions: Drug: Sialic Acid Tablets;   Drug: Placebo Tablets
4 Completed A Phase 2 Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy
Conditions: GNE Myopathy;   Hereditary Inclusion Body Myopathy
Interventions: Drug: Sialic Acid Extended Release (SA-ER);   Drug: Placebo
5 Completed Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
Conditions: Hereditary Inclusion Body Myopathy (HIBM);   GNE Myopathy
Intervention: Drug: ManNAc
6 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:
7 Recruiting Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Conditions: Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia;   Paget Disease of Bone;   Frontotemporal Dementia;   Myopathy
Intervention:
8 Recruiting A Natural History Study of Patients With Hereditary Inclusion Body Myopathy
Condition: Hereditary Inclusion Body Myopathy
Intervention:
9 Completed Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
Condition: Hereditary Inclusion Body Myopathy
Intervention: Drug: Immune Globulin
10 Completed Low Protein Diet in Patients With Collagen VI Related Myopathies
Conditions: Bethlem Myopathy;   Ullrich Congenital Muscular Dystrophy
Intervention: Other: Low protein diet
11 Recruiting Myotubular Myopathy Genetic Testing Study
Condition: Myotubular Myopathy
Intervention: Other: Genetic Testing
12 Active, not recruiting Myotubular Myopathy Event Study
Condition: X-linked Myotubular Myopathy
Intervention:
13 Recruiting Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Condition: Myotubular Myopathy
Intervention:
14 Enrolling by invitation Treatment of TNNT1-Myopathy With L-Tyrosine.
Condition: Nemaline Myopathy
Interventions: Drug: L-Tyrosine;   Drug: Placebo
15 Active, not recruiting Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Condition: Myopathy
Intervention:
16 Recruiting An Open Label Phase 2 Study of DEX-M74 in Subjects With GNE Myopathy
Condition: GNE Myopathy
Interventions: Drug: ManNac.;   Drug: ManNac
17 Completed Safety and Pharmacokinetics of Sialic Acid Tables in Patients With Hereditary Inclusion Body Myopathy (HIBM)
Condition: Hereditary Inclusion Body Myopathy (HIBM)
Interventions: Drug: Sialic Acid Extended Release (SA-ER) Tablets;   Drug: Sialic Acid Extended Release (SA-ER) Tables
18 Not yet 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
19 Recruiting A Study Investigating the Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy
Condition: Mitochondrial Myopathy
Interventions: Drug: MTP-131;   Drug: Placebo
20 Active, not recruiting Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
Conditions: Myopathy;   Cognitive Impairment
Intervention: Procedure: Biopsy/Ultrasound

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