Glycerol phenylbutyrate (Ravicti) for pyruvate dehydrogenase deficiency
Official title: 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®)
Run by Assistance Publique - Hôpitaux de Paris · NCT06887777 · Data updated 2026-11-12
This trial will try glycerol phenylbutyrate (Ravicti) in children and young adults with confirmed pyruvate dehydrogenase deficiency to see if it improves fatigue, development, and seizure control.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Ages | 2 Years to 25 Years |
| Sex | All |
| Enrollment | 15 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris, France) |
| Status | Recruiting |
| Started | October 1, 2025 |
| Main results expected | April 1, 2026 |
| Study ends | April 1, 2027 |
| Registry record updated | March 31, 2026 |
| Trial ID | NCT06887777 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Children aged 2–17 or adults 18–25 with molecularly confirmed PDH deficiency meeting specified pathogenic variant criteria (e.g., class 4–5 missense variants in PDHA1 or qualifying genotypes in PDHB, DLAT, or PDHX) who can attend study visits and comply with contraception requirements when applicable are eligible.
✕Probably not a fit
Patients whose PDH deficiency is due to non-missense loss-of-function variants (except some PDHX cases), or those unable to attend the required hospital visits or comply with study procedures, are less likely to benefit from this intervention.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a phase II, prospective, non-comparative study testing oral glycerol phenylbutyrate (Ravicti) in patients with genetically confirmed PDH deficiency. Participants continue their usual care (vitamin B1, ketogenic diet, and any anti-epileptic or dystonia treatments) while taking the study drug and are monitored for adverse events and treatment compliance. Clinical outcomes (fatigue, polyhandicap, neurodevelopment, quality of life, and seizure frequency) and biochemical markers (PDH-related markers, plasma lactate, and amino acids) are measured at baseline, 3 months, and 6 months during three planned three-day hospital visits. The trial uses repeated within-patient measurements rather than a control group to look for clinical and biochemical changes over time.
Why it matters
Potential benefit: If effective, the drug could reduce fatigue, improve neurodevelopmental functioning, and lower seizure burden in some patients with PDH deficiency.
How similar studies have gone: Preclinical work in patient cells and mouse models showed phenylbutyrate can increase PDH activity, and clinical use of phenylbutyrate exists for urea cycle disorders, but controlled clinical evidence for benefit in PDH deficiency remains limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Child from 2 to 17 years of age Or * Adult from 18 to 25 years of age * With a PDH deficiency confirmed by molecular biology: * a class 4 or 5- missense variant on the PDHA1 gene or * one homozygous variant or two mixed heterozygous variants of class 4 or 5 that are missense variants on PDHB or DLAT genes or * 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 * 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 * Signature of consent by the legal representative * Beneficiary of a social security coverage (affiliated or entitled) Exclusion Criteria: * Patient with E3 deficiency due to pathogenic mutation in DLD gene * Patient with non-sense mutation on PDHB or DLAT gene, and male patient with non-sense mutation or PDHA1 gene. * Patient with planned hip or scoliosos surgery during the study timeframe. * Patient whose parents / legal representative refuse flu vaccine. * Treatment change during the last 3 months prior inclusion (ketogenic diet and/or B1 vitamin) * Hypersensitivity to Glycerol Phenylbutyrate or to any of the excipients * No disease requiring Glycerol Phenylbutyrate (Hyperammonemia due to urea cycle disease or other aetiology) * Pregnant or breastfeeding women * Participation to another clinical trial on medicinal products for human use
Where it's running
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Hôpital Universitaire Necker - Enfants Malades
Paris, France, France Recruiting
Study contacts
- Study coordinator: Pascale De Lonlay, MD, PhD
- Email: pascale.delonlay@aphp.fr
- Phone: 01 44 49 58 52
Similar studies
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Understanding genetic causes of pyruvate dehydrogenase complex deficiencies
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.