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
Trial Information
Current as of April 30, 2025
Not yet recruiting
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
About Assistance Publique Hôpitaux De Paris
Assistance Publique - Hôpitaux de Paris (AP-HP) is a leading public hospital system in France, renowned for its commitment to healthcare excellence and innovative medical research. As a prominent clinical trial sponsor, AP-HP plays a pivotal role in advancing medical knowledge and improving patient care through rigorous scientific investigations across a wide range of therapeutic areas. With a focus on collaboration and interdisciplinary approaches, AP-HP leverages its extensive network of hospitals and expert clinicians to facilitate high-quality clinical trials that adhere to the highest ethical and regulatory standards, ultimately aiming to translate research findings into tangible health benefits for diverse patient populations.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Marseille, , France
Bordeaux, , France
Montpellier, , France
Paris, , France
Lyon, , France
Lille, , France
Patients applied
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported