Actively Recruiting
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-03-31
15
Participants Needed
1
Research Sites
78 weeks
Total Duration
On this page
Sponsors
A
Assistance Publique - Hôpitaux de Paris
Lead Sponsor
U
URC-CIC Paris Descartes Necker Cochin
Collaborating Sponsor
AI-Summary
What this Trial Is About
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®). The 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). During all the research, AE/SAE and treatment compliance will be recorded. Patients will keep their usual treatment during the study time: vitamin B1, ketogenic diet, possible anti-epileptic and/or dystonic treatment(s). The 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.
CONDITIONS
Official Title
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children aged 2 to 17 years or adults aged 18 to 25 years
- Confirmed pyruvate dehydrogenase deficiency by molecular biology with specific genetic variants: class 4 or 5 missense variant on PDHA1 gene, or homozygous or mixed heterozygous class 4 or 5 missense variants on PDHB or DLAT genes, or homozygous or mixed heterozygous class 4 or 5 variants on PDHX gene including non-sense and frameshift variants and intragenic deletions
- For females of childbearing potential, negative bHCG test and use of effective contraception until 30 days after study end
- For males, use of effective contraception until 30 days after study end
- Signed consent by legal representative
- Beneficiary of social security coverage
You will not qualify if you...
- E3 deficiency caused by pathogenic mutation in DLD gene
- Non-sense mutation on PDHB or DLAT gene, and male patients with non-sense mutation on PDHA1 gene
- Planned hip or scoliosis surgery during the study period
- Refusal of flu vaccine by parents or legal representative
- Change in ketogenic diet or vitamin B1 treatment within 3 months prior to inclusion
- Hypersensitivity to glycerol phenylbutyrate or any excipients
- No disease requiring glycerol phenylbutyrate treatment such as hyperammonemia
- Pregnant or breastfeeding women
- Participation in another clinical trial involving medicinal products for human use
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Hôpital Universitaire Necker - Enfants Malades
Paris, France, France, 75015
Actively Recruiting
Research Team
P
Pascale De Lonlay, MD, PhD
CONTACT
G
Gael Plastow, Project advisor
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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