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29 studies found for:    "MERRF Syndrome" OR "Mitochondrial Myopathies" OR "myoclonic epilepsy with ragged-red fibers"
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Rank Status Study
1 Recruiting RTA 408 Capsules in Patients With Mitochondrial Myopathy - MOTOR
Condition: MItochondrial Myopathies
Interventions: Drug: Omaveloxolone capsules, 2.5 mg;   Drug: omaveloxolone capsules, 5 mg;   Drug: omaveloxolone capsules, 10 mg;   Drug: Placebo capsules;   Drug: omaveloxolone capsules, 20 mg;   Drug: omaveloxolone capsules, TBD mg;   Drug: omaveloxolone capsules, 40 mg;   Drug: omaveloxolone capsules, 80 mg
2 Completed 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
3 Completed Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy
Condition: Mitochondrial Myopathy
Intervention: Drug: thioctic acid
4 Unknown  The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease
Condition: Mitochondrial Myopathy
Intervention: Behavioral: Exercise
5 Not yet recruiting Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
Conditions: Spinal Muscular Atrophy Type 3;   Mitochondrial Myopathy
6 Completed Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
Conditions: Mitochondrial Myopathy;   MELAS Syndrome;   Lactic Acidosis
7 Recruiting The KHENERGY Study
Conditions: Mitochondrial Diseases;   Mitochondrial Myopathies;   Mitochondrial Encephalomyopathies;   MELAS;   MIDD
Interventions: Drug: KH176;   Drug: placebo
8 Completed Nutritional Assessment in Mitochondrial Cytopathy
Conditions: Mitochondrial Diseases;   Mitochondrial Myopathies;   Mitochondrial Cytopathies
9 Recruiting A Study of Bezafibrate in Mitochondrial Myopathy
Condition: Mitochondrial Diseases
Intervention: Drug: Bezafibrate
10 Completed Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy
Condition: Mitochondrial Disease
11 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
12 Recruiting Fatty Acid Oxidation Defects and Insulin Sensitivity
Conditions: Very Long-chain Acyl-CoA Dehydrogenase Deficiency;   Trifunctional Protein Deficiency;   Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Normal Volunteers
Interventions: Drug: Intralipid/Heparin;   Drug: Glycerol/Saline;   Drug: Hyperinsulinemic euglycemic clamp
13 Completed High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
Conditions: Very Long-chain Acyl-CoA Dehydrogenase Deficiency;   Trifunctional Protein Deficiency;   Carnitine Palmitoyltransferase 2 Deficiency;   Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Intervention: Behavioral: Diet counseling
14 Available Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
Conditions: Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency;   Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2);   Mitochondrial Trifunctional Protein Deficiency;   Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogen Storage Disorders;   Pyruvate Carboxylase Deficiency Disease;   ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of;   Barth Syndrome
Intervention: Drug: triheptanoin
15 Terminated Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy
Conditions: Peripheral Neuropathy;   Mitochondrial Trifunctional Protein Deficiency
Intervention: Dietary Supplement: Vitamin E supplement
16 Completed
Has Results
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Condition: Trifunctional Protein Deficiency
17 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
18 Completed Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy
Condition: Mitochondrial Cytopathies Disorders
Interventions: Other: high fat diet;   Other: normal fat diet
19 Completed MRI Study - Chronic Progressive External Ophthalmoplegia
Condition: Chronic Progressive External Ophthalmoplegia
Intervention: Other: Magnetic Resonance Imaging
20 Unknown  Mitochondrial nt3243 A>G Mutation in Taiwan
Conditions: MELAS Syndrome;   Noninsulin-dependent Diabetes Mellitus With Deafness

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