[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mitochondrial-metabolism-disorders\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mitochondrial-metabolism-disorders":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,46],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":30,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":5},"100462716","phase-4-quantifying-hepatic-mitochondrial-fluxes-in-humans-100462716",false,"NCT05305287","Quantifying Hepatic Mitochondrial Fluxes in Humans","Quantitation of Hepatic Mitochondrial Fluxes in Humans With Nonalcoholic Fatty Liver Disease (NAFLD)","T2D with NAFL\n\nInclusion Criteria:\n\n* Confirmed T2D based on OGTT (2 h glucose ≥200 mg\u002Fdl).\n* Treated with diet, metformin, and\u002For sulfonylurea and in good general health determined by medical history, physical exam, and routine blood chemistries;\n* age = 18-80 years;\n* BMI = 25-40 kg\u002Fm2;\n* HbA1c = 7-10%; stable body weight (±4 pounds) over the preceding 3-months;\n* not taking any medication known to affect glucose metabolism other than antidiabetic medications.\n* Evidence of moderate\u002Fsevere fatty liver (steatosis; grade S2\u002FS3 on FibroScan corresponding to ≥10% fat on MRI-PDFF) and no\u002Fminimal hepatic fibrosis (grade F0\u002FF1 on FibroScan).\n\nExclusion Criteria:\n\n* Alcohol consumption \\>14 units\u002Fweek for women and \\>21 units\u002Fweek for men.\n* Cirrhosis (fibrosis stage 4).\n* Type 1 diabetes and\u002For GAD positive subjects.\n* Subjects not drug naive or have been on metformin more than 3 months.\n* Presence of proliferative retinopathy.\n* Urine albumin excretion \\> 300 mg\u002Fday.\n* Evidence of other forms of chronic liver disease, including alcoholic liver disease, hepatitis B and C, primary biliary cholangitis, suspected\u002Fproven liver cancer and any other liver disease other than NAFLD.\n* History of NY Class III-IV heart failure\n\nT2D with NASH\n\nInclusion Criteria:\n\n* Confirmed T2D based on OGTT (2 h glucose ≥200 mg\u002Fdl).\n* Treated with diet, metformin, and\u002For sulfonylurea and in good general health determined by medical history, physical exam, and routine blood chemistries;\n* age = 18-80 years;\n* BMI = 25-40 kg\u002Fm2;\n* HbA1c = 7-10%;\n* stable body weight (±4 pounds) over the preceding 3-months;\n* not taking any medication known to affect glucose metabolism other than antidiabetic medications.\n* Evidence of moderate\u002Fsevere fatty liver (steatosis; grade S2\u002FS3 on FibroScan corresponding to ≥10% liver fat on MRI-PDFF) and moderate\u002Fsevere hepatic fibrosis (grade F2\u002FF3 on FibroScan).\n\nExclusion Criteria:\n\n* Alcohol consumption \\>14 units\u002Fweek for women and \\>21 units\u002Fweek for men.\n* Cirrhosis (fibrosis stage 4).\n* Type 1 diabetes and\u002For GAD positive subjects.\n* Subjects not drug naive or have been on metformin more than 3 months.\n* Presence of proliferative retinopathy.\n* Urine albumin excretion \\> 300 mg\u002Fday.\n* Evidence of other forms of chronic liver disease, including alcoholic liver disease, hepatitis B and C, primary biliary cholangitis, suspected\u002Fproven liver cancer and any other liver disease other than NAFLD.\n* History of NY Class III-IV heart failure","ALL","18 Years","80 Years",{"count":20,"type":21},60,"ESTIMATED","INTERVENTIONAL",[24],"PHASE4","In this study the investigators will quantitate hepatic mitochondrial fluxes in T2D patients with NAFL and NASH before and after 16-weeks treatment with the insulin sensitizer pioglitazone",[27,28,29],"Non-Alcoholic Fatty Liver Disease","Type 2 Diabetes","Mitochondrial Metabolism Disorders",[31,32,33],"NAFLD","Diet","Exercise","RECRUITING","2026-01-07",{"date":37,"type":38},"2026-01-09","ACTUAL",{"date":40,"type":38},"2022-11-01",{"date":42,"type":21},"2027-03-31",{"name":44,"class":45},"The University of Texas Health Science Center at San Antonio","OTHER",{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":22,"phases":58,"briefSummary":60,"conditions":61,"keywords":66,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":83},"100424116","phase-2-deoxynucleosides-pyrimidines-as-treatment-for-mitochondrial-depletion-syndrome-100424116","NCT04802707","Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome","A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders","dC-dT-MDS","Inclusion Criteria:\n\n* Children \\& Adults (0 -60 Y)\n* Written informed consent obtained,\n* Clinical Diagnosis of a Mitochondrial Depletion Disorder.\n* Pathogenic variant(s) Homozygote and Heterozygote in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK\n* Females of childbearing age:\n\nNegative urinary pregnancy test at screening Agree to use effective contraception for the duration of the study\n\nExclusion Criteria:\n\n* Inability of a parent or legal guardian to give informed consent for any reason\n* Chronic severe diarrhea","1 Month","60 Years",{"count":57,"type":21},200,[59],"PHASE2","Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis. MDS are phenotypically heterogeneous and usually classified as myopathic, encephalomyopathic, hepatocerebral or neurogastrointestinal.\n\nNo efficacious therapy is available for any of these disorders. Affected individuals should have a comprehensive evaluation to assess the degree of involvement of different systems. Treatment is directed mainly toward providing symptomatic management. No treatment for MDS.\n\nClinical trials studies and in vitro\u002Fin vivo research studies showed that the enhancement of the salvage pathway by increasing the availability of deoxyribonucleosides needed for each specific genetic defect prevents mtDNA depletion.\n\nEarly recognition and immediate therapy to restore mitochondrial function could potentially improve clinical course.\n\nConfirming the benefit of deoxynucleosides as a safe and potentially efficacious therapy, will lead to the availability of the first specific and effective treatment for Mitochondria Depletion Disorders.\n\nIn this phase II Trial a mix of Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) will be used as early treatment of MDS.\n\nThe dose used has been already used in other clinical trials, and appears to effective and well-tolerated. The subjects included are children (0-18Y), with positive MDS diagnosis and express mutations in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK. Subjects with MDS expressing neurological phenotypes dysfunction.",[62,63,64,65,29],"Mitochondrial Diseases","Mitochondrial Encephalomyopathy","Mitochondrial Encephalopathy","Mitochondrial DNA Depletion",[67,68,69,70,71,72,73],"Deoxycytidine","Deoxythymidine","Deoxynucleoside","Pyrimidine","Mitochondria","mtDNA","Depletion","2025-05-27",{"date":76,"type":38},"2025-05-31",{"date":78,"type":38},"2021-10-18",{"date":80,"type":21},"2029-12-30",{"name":82,"class":45},"Kenneth Myers, MD",1]