Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)

Launched by ASSISTANCE PUBLIQUE - HÔPITAUX DE PARIS · Mar 14, 2025

Keywords

ClinConnect Summary

This clinical trial is studying the safety and effectiveness of a medication called glycerol phenylbutyrate (Ravicti) for patients with pyruvate dehydrogenase deficiency (PDH deficiency), a rare metabolic disorder. The trial is aimed at understanding how this treatment affects symptoms like fatigue, quality of life, and seizures in both children and young adults aged 2 to 25 who have a confirmed diagnosis of PDH deficiency. Participants will keep taking their usual medications, and their progress will be monitored during three hospital visits over six months.

To be eligible for the study, participants must be between 2 and 25 years old and have specific genetic changes related to PDH deficiency. They also need to be covered by social security and provide consent from a legal representative. Throughout the trial, patients will be closely monitored for any side effects or complications, and their biological markers will be regularly checked to assess their condition. This study is not yet recruiting participants, but it is an important step toward finding better treatments for those affected by this condition.

Gender

ALL

Eligibility 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
• • Male patient with a class 4 or 5 non-sense variant on the PDHA1, PDHB or DLAT gene
• • 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