[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pyruvate-dehydrogenase-complex-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pyruvate-dehydrogenase-complex-deficiency":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,42],{"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":28,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100542270","phase-1-triheptanoin-for-children-with-primary-specific-pyruvate-dehydrogenase-complex-pdc-deficiency-100542270",false,"NCT06340685","Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency","An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency","Inclusion Criteria:\n\n1. Age 1 year to \\\u003C18 years of age\n2. Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study\n3. Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation\n4. Not pregnant or lactating\n5. Parental permission and assent of minor and willingness to comply with study procedures\n6. Not participating in any interventional treatment clinical trials\n7. Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation\n8. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \\& Dosing (Day 1).\n9. Negative pregnancy test for all female patients of childbearing age. Individuals of childbearing potential must agree to use a highly effective method of contraception, and males must agree not to father a child or donate sperm. True abstinence for the duration of the study will also be accepted.\n10. Subjects are following some form or type of ketogenic diet at the time of the screening visit.\n\nExclusion Criteria:\n\n1. Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD)\n2. Use of alcohol or drugs of abuse\n3. Evidence of liver disease as defined by elevations of AST or ALT \\>2x ULN in the past 6 months\n4. Pregnant, breastfeeding, or lactating females\n5. On any investigational product research study (and not completed the required 30-day washout period prior to Intake \\& Dosing) or recipient of gene therapy or organ or bone-marrow transplantation","ALL","1 Year","17 Years",{"count":20,"type":21},6,"ESTIMATED","INTERVENTIONAL",[24],"PHASE1","This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency. The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment PDC Deficiency. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with PDC Deficiency.",[27],"Pyruvate Dehydrogenase Complex Deficiency",[27],"RECRUITING","2026-02-12",{"date":32,"type":33},"2026-02-17","ACTUAL",{"date":35,"type":33},"2024-07-11",{"date":37,"type":21},"2029-06-30",{"name":39,"class":40},"Jirair Krikor Bedoyan","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":18,"enrollmentInfo":4,"targetDuration":4,"studyType":50,"phases":4,"briefSummary":51,"conditions":52,"keywords":53,"overallStatus":55,"whyStopped":4,"lastUpdateSubmitDate":56,"lastUpdatePostDateStruct":57,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":59,"locationsCount":4},"100587659","expanded-access-treatment-protocol-with-dca-for-patients-with-pdcd-100587659","NCT06931262","Expanded Access Treatment Protocol With DCA for Patients With PDCD","Expanded Access Treatment Protocol With Dichloroacetate Sodium for Patients With Pyruvate Dehydrogenase Complex Deficiency","Inclusion Criteria:\n\n1. Ages 0 through adulthood\n2. Presence of characteristic clinical or metabolic features of PDCD and\n3. Presence of a known pathogenic mutation of a gene that is specifically associated with PDC (PDHA1, PDHB, DLAT, PDHX, DLD).\n4. Females of reproductive age must be willing to use an effective method of barrier contraception for the duration of the study.-\n\nExclusion Criteria:\n\n1. A genetic mitochondrial disease other than those stipulated under inclusion criteria\n2. Primary, defined organic acidurias other than lactic acidosis (e.g., propionic aciduria)\n3. Primary disorders of amino acid metabolism\n4. Primary disorders of fatty acid oxidation\n5. Secondary lactic acidosis due to impaired oxygenation or circulation (e.g., due to severe cardiomyopathy or congenital heart defects)\n6. Malabsorption syndromes associated with D-lactic acidosis\n7. Renal insufficiency, defined as 1) a requirement for chronic dialysis or 2) serum creatinine ≥ 1.2 mg\u002Fdl or creatinine clearance \\\u003C60 ml\u002Fmin\n8. Primary hepatic disease unrelated to PDCD\n9. Pregnancy or breast feeding -","0 Years","EXPANDED_ACCESS","Expanded Access (EA) will provide a transition to continue therapy for those patients who are currently in the open label extension of the Phase III study, SL 1009-01, while also allowing new patients diagnosed with PDCD who meet the eligibility criteria to also have access to therapy that would be otherwise unavailable.",[27],[54],"PDCD","AVAILABLE","2025-05-05",{"date":58,"type":33},"2025-05-08",{"name":60,"class":61},"Saol Therapeutics Inc","INDUSTRY"]