Comment Period Extended to 3/23/2015 for Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
105 studies found for:    "myoclonic epilepsy myopathy sensory ataxia" OR "Mitochondrial Diseases"
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Rank Status Study
21 Enrolling by invitation Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
Condition: Mitochondrial Disease
Intervention: Device: Diffuse Optical Spectroscopy
22 Not yet recruiting Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
Conditions: Autism Spectrum Disorders;   Mitochondrial Diseases
Intervention: Drug: Mitochondrial Cocktail
23 Unknown  Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Conditions: Mitochondrial Diseases;   Diagnosis;   DNA Mutations
Intervention: Genetic: mitochondrial DNA mutations diagnosis
24 Recruiting Longitudinal Study of Mitochondrial Hepatopathies
Conditions: Acute Liver Failure,;   Mitochondrial Diseases;   End Stage Liver Disease,;   Respiratory Chain Deficiencies, Mitochondrial;   Disorder of Fatty Acid Oxidation
Intervention:
25 Recruiting EPI-743 for Metabolism or Mitochondrial Disorders
Conditions: Undiagnosed Diseases;   Metabolic Disease;   Neurology;   Myoptahy;   Oxidation/Reduction;   Mitochondrial Disorders
Intervention: Drug: EPI-743
26 Completed Therapy for Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder
Condition: Chronic Fatigue Syndrome
Intervention: Drug: Nutraceuticals
27 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
28 Completed Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)
Condition: MELAS Syndrome
Intervention: Biological: Intramuscular seasonal trivalent inactivated influenza vaccine
29 Enrolling by invitation Natural History of Pearson Syndrome
Condition: Pearson Syndrome
Intervention:
30 Recruiting Phase 2 Study of EPI-743 in Children With Pearson Syndrome
Condition: Pearson Syndrome
Intervention: Drug: EPI-743
31 Recruiting MNGIE AHSCT Safety Study
Condition: Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Intervention: Biological: Allogeneic Hematopoetic Stem Cells
32 Unknown  Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome
Condition: MELAS Syndrome
Intervention: Drug: Dichloroacetate
33 Enrolling by invitation Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Intervention: Drug: EPI-743
34 Active, not recruiting Safety and Efficacy Study of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Interventions: Drug: Placebo;   Drug: EPI-743 15 mg/kg;   Drug: EPI-743 5 mg/kg
35 Recruiting Natural History Study - Mitochondrial Disease
Condition: Mitochondrial DNA Mutation
Intervention:
36 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
37 Completed Abdominal Adiposity and Muscle Mitochondrial Functions
Condition: Mitochondrial Respiratory Chain Deficiencies
Intervention:
38 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
39 Recruiting Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action
Conditions: Insulin Sensitivity;   Multiple Mitochondrial Dysfunctions Syndrome
Interventions: Drug: Dapagliflozin;   Drug: Placebo
40 Completed Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
Conditions: Carnitine Palmitoyltransferase II Deficiency;   Very Long Chain Acyl Coa Dehydrogenase Deficiency
Interventions: Drug: Bezafibrate;   Other: Placebo

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Indicates status has not been verified in more than two years