[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT06340685":3,"trial-entities:NCT06340685":112,"trial-summary:NCT06340685":117},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":21,"primary_purpose":22,"phases":23,"enrollment_info":25,"interventions":28,"primary_outcomes":36,"secondary_outcomes":67,"sex":76,"minimum_age":77,"maximum_age":78,"healthy_volunteers":15,"eligibility_criteria":79,"std_ages":83,"locations":85,"central_contacts":101,"overall_officials":108,"references":110,"see_also_links":111},"NCT06340685","STUDY23050042","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","RECRUITING","2029-06-30","2026-02","2026-02-17","2024-07-11","Jirair Krikor Bedoyan","OTHER",false,"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.","Participation in the study will require the patient to participate in up to 10 visits over a two-year period. Five of those visits must be done at the UPMC Children's Hospital of Pittsburgh (CHP). Other visits can take place at CHP or remotely. All of these visits will include blood draws.\n\nTriheptanoin will be added to the patients' diet and administered at least 4 times per day. The target dose will be 1.2-3.9 g of triheptanoin per kg body weight with a max goal dose of about 4 g\u002Fkg per day.\n\nThe triheptanoin will be provided to the patients at no cost. All other costs will be billed to the patients' insurance.",[19],"Pyruvate Dehydrogenase Complex Deficiency",[19],"INTERVENTIONAL","TREATMENT",[24],"PHASE1",{"count":26,"type":27},6,"ESTIMATED",[29],{"type":30,"name":31,"description":32,"armGroupLabels":33,"otherNames":34},"DRUG","Triheptanoin","Open-label design with doses of triheptanoin up to 4.0 gm\u002Fkg triheptanoin",[31],[35],"Dojolvi",[37,40,43,46,49,52,55,58,61,64],{"measure":38,"timeFrame":39},"Number of participants who report side-effects related to gastrointestinal (GI) distress","24 months",{"measure":41,"description":42,"timeFrame":39},"Normalization of biochemical markers of disease (lactate)","Change in lactate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol\u002FL",{"measure":44,"description":45,"timeFrame":39},"Normalization of biochemical markers of disease (pyruvate)","Change in pyruvate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg\u002Fdl",{"measure":47,"description":48,"timeFrame":39},"Normalization of biochemical markers of disease (β-hydroxybutyrate level)","Change in β-hydroxybutyrate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol\u002FL",{"measure":50,"description":51,"timeFrame":39},"Normalization of biochemical markers of disease (Alanine\u002FLeucine ratio)","Change in Alanine\u002FLeucine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol\u002FL",{"measure":53,"description":54,"timeFrame":39},"Normalization of biochemical markers of disease (Alanine\u002FLysine ratio)","Change in Alanine\u002FLysine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol\u002FL",{"measure":56,"description":57,"timeFrame":39},"Normalization of biochemical markers of disease (Alanine\u002FProline ratio)","Change in Alanine\u002FProline ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol\u002FL",{"measure":59,"description":60,"timeFrame":39},"More efficacious seizure control","Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated",{"measure":62,"description":63,"timeFrame":39},"More efficacious metabolic control","Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated",{"measure":65,"description":66,"timeFrame":39},"More efficacious disease control","Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated",[68,71,74],{"measure":69,"description":70,"timeFrame":39},"Improved quality of life","Measured by a change in scores on the PedsQL, from before and after trihepatnoin is initiated",{"measure":72,"description":73,"timeFrame":39},"Improved long-term maintenance and tolerance of diet","Measured by parental report of diet maintenance and tolerance, from before and after triheptanoin is initiated",{"measure":69,"description":75,"timeFrame":39},"Measured by a change in scores on the MetabQoL, from before and after trihepatnoin is initiated","ALL","1 Year","17 Years",{"inclusion":80,"exclusion":81,"raw_text":82},[],[],"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",[84],"CHILD",[86],{"facility":87,"status":8,"city":88,"state":89,"zip":90,"country":91,"contacts":92,"geoPoint":98},"UPMC Children's Hospital of Pittsburgh","Pittsburgh","Pennsylvania","15224","United States",[93,96],{"name":94,"role":95},"Jirair Bedoyan, MD, PhD","CONTACT",{"name":94,"role":97},"PRINCIPAL_INVESTIGATOR",{"lat":99,"lon":100},40.44062,-79.99589,[102,106],{"name":103,"role":95,"phone":104,"email":105},"Angela Riemenschneider","412-692-5232","angela.riemenschneider@chp.edu",{"name":94,"role":95,"email":107},"bedoyanjk@upmc.edu",[109],{"name":94,"affiliation":87,"role":97},[],[],{"nct_id":4,"conditions":113,"biomarkers":115},[114],"Pyruvate Dehydrogenase Deficiency",[116],"PDHA1, PDHB, DLAT, PDHX, or PDP1",{"nct_id":4,"found":118,"summary":119,"prompt_version":129},true,{"design":120,"status":121,"heading":122,"summary":123,"follow_up":124,"word_count":125,"commitments":126,"compensation":127,"drugs_mentioned":128},"This is an open-label study, meaning both you and the study team will know you are receiving triheptanoin. It plans to enroll 6 participants.","completed","Triheptanoin for Children with Pyruvate Dehydrogenase Complex Deficiency","This study is testing a medication called triheptanoin for children aged 1 to 17 who have Pyruvate Dehydrogenase Complex (PDC) Deficiency. PDC Deficiency is a genetic condition that affects how the body uses energy. Triheptanoin is already approved for another condition, and researchers believe it might also help with PDC Deficiency. The study will look at how safe triheptanoin is and how well it works. Success in this study means fewer side effects, especially stomach problems, and that certain blood markers (lactate and pyruvate) return to normal levels after 24 months. The study plans to enroll 6 participants, but its current status is unclear.","The study will measure outcomes related to side effects and biochemical markers for 24 months.",104,"You would participate in up to 10 visits over two years, with five visits at UPMC Children's Hospital of Pittsburgh and others potentially remote. All visits will include blood draws, and triheptanoin will be added to your diet at least four times a day.","The medication triheptanoin will be provided at no cost. All other costs will be billed to your insurance.",[31],"v2"]