[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100584318":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":21,"locations":32,"responsibleParty":49,"collaborators":51,"id":54,"slug":55,"hasResults":56,"nctId":57,"briefTitle":58,"officialTitle":59,"acronym":60,"eligibilityCriteria":61,"healthyVolunteers":56,"sex":62,"minAge":63,"maxAge":64,"enrollmentInfo":65,"targetDuration":20,"studyType":68,"phases":69,"briefSummary":71,"conditions":72,"keywords":74,"overallStatus":35,"whyStopped":20,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":89},{"fullName":5,"class":6},"Assistance Publique - Hôpitaux de Paris","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Glycerol phenylbutyrate treatment","EXPERIMENTAL","The patients will orally take a dose of 200 mg\u002Fkg\u002Fday three times a day during meals: breakfast, lunch or afternoon snack and diner for 6 months.\n\nQuestionnaires will be answered by parents or the patient's legal guardian.\n\nAn additional hospital visit à 3 months following treatment start will be conducted with 6 blood drawing",[13],"Drug: Glycerol Phenylbutyrate 1100 MG\u002FML [Ravicti]",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"DRUG","Glycerol Phenylbutyrate 1100 MG\u002FML [Ravicti]","The patients will orally take a dose of 200 mg\u002Fkg\u002Fday three times a day during meals: breakfast, lunch or afternoon snack and diner for 6 months.",[9],null,[22,28],{"name":23,"role":24,"phone":25,"phoneExt":26,"email":27},"Pascale De Lonlay, MD, PhD","CONTACT","01 44 49 58 52","+33","pascale.delonlay@aphp.fr",{"name":29,"role":24,"phone":30,"phoneExt":26,"email":31},"Gael Plastow, Project advisor","01 44 38 18 57","gael.plastow@aphp.fr",[33],{"facility":34,"status":35,"city":36,"state":37,"zip":38,"country":37,"countryCode":39,"cosmosGeoPoint":40,"geoPoint":45,"contacts":46},"Hôpital Universitaire Necker - Enfants Malades","RECRUITING","Paris","France","75015","FR",{"type":41,"coordinates":42},"Point",[43,44],2.3488,48.85341,{"lat":44,"lon":43},[47],{"name":48,"role":24,"phone":25,"phoneExt":26,"email":27},"Pascale De Lonlay, MD",{"type":50,"investigatorFullName":20,"investigatorTitle":20,"investigatorAffiliation":20,"oldNameTitle":20,"oldOrganization":20},"SPONSOR",[52],{"name":53,"class":6},"URC-CIC Paris Descartes Necker Cochin","100584318","phase-2-efficacy-and-safety-of-the-treatment-of-pyruvate-dehydrogenase-deficiency-patients-with-glycerol-phenylbutyrate-ravicti-100584318",false,"NCT06887777","Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)","A Phase II, Multicentric, Prospective, Non-comparative Clinical Trial to Assess the Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency (PDH) Patients With Glycerol Phenybutyrate (RAVICTI®)","PDH-RAVICTI","Inclusion Criteria:\n\n* Child from 2 to 17 years of age Or\n* Adult from 18 to 25 years of age\n* With a PDH deficiency confirmed by molecular biology:\n\n  * a class 4 or 5- missense variant on the PDHA1 gene or\n  * one homozygous variant or two mixed heterozygous variants of class 4 or 5 that are missense variants on PDHB or DLAT genes or\n  * one homozygous variant or two mixed heterozygous variants of class 4 or 5 on PDHX genes (including non-sense and frameshift variants, and intragenic deletions\n* For females of childbearing potential, negative bHCG and effective method of contraception (sexual abstinence, hormonal contraception containing ethinylestradiol and levonorgestrel, intrauterine device or hormone-releasing system, cap, diaphragm or sponge with spermicide, condom) until 30 days after the end of study. For male, an effective method of contraception (sexual abstinence, condom) until 30 days after the end of study\n* Signature of consent by the legal representative\n* Beneficiary of a social security coverage (affiliated or entitled)\n\nExclusion Criteria:\n\n* Patient with E3 deficiency due to pathogenic mutation in DLD gene\n* Patient with non-sense mutation on PDHB or DLAT gene, and male patient with non-sense mutation or PDHA1 gene.\n* Patient with planned hip or scoliosos surgery during the study timeframe.\n* Patient whose parents \u002F legal representative refuse flu vaccine.\n* Treatment change during the last 3 months prior inclusion (ketogenic diet and\u002For B1 vitamin)\n* Hypersensitivity to Glycerol Phenylbutyrate or to any of the excipients\n* No disease requiring Glycerol Phenylbutyrate (Hyperammonemia due to urea cycle disease or other aetiology)\n* Pregnant or breastfeeding women\n* Participation to another clinical trial on medicinal products for human use","ALL","2 Years","25 Years",{"count":66,"type":67},15,"ESTIMATED","INTERVENTIONAL",[70],"PHASE2","This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®).\n\nThe trial will be conducted with three visits: 3 day hospitalizations including clinical consultations and paramedical procedures at Month 0 (M0), Month 3 (M3), Month 6 (M6).\n\nDuring all the research, AE\u002FSAE and treatment compliance will be recorded. Patients will keep their usual treatment during the study time: vitamin B1, ketogenic diet, possible anti-epileptic and\u002For dystonic treatment(s).\n\nThe efficacy on fatigue, polyhandicap, neurodevelopmental functioning, quality of life and seizure amount for epileptic patients will be evaluated at 0, 3 and 6 months. Biological balance will be assed with regular quantification of PDH deficiency markers, lactate concentration and amino acid plasma quantification.",[73],"Pyruvate Dehydrogenase Complex Deficiency Disease",[75,76,77,78,79],"Pyruvate dehydrogenase (PDH)","Enzyme","PDH deficiency","Glycerol Phenylbutyrate","Fatigue","2026-03-30",{"date":82,"type":83},"2026-03-31","ACTUAL",{"date":85,"type":83},"2025-10-01",{"date":87,"type":67},"2027-04-01",{"name":5,"class":6},1]