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PDH-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 PHENYLBUTYRATE (RAVICTI®)
EU CTIS ID: 2024-516410-38-00
What this study is testing
Evaluation of the efficacy of Glycerol Phenylbutyrate treatment on fatigue at 6 months
- Therapeutic exploratory (Phase II)
A plain-language read of the study's public EU CTIS listing. The study team confirms the details.
Who can take part
You may be able to join if
- 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 at hemizygous or heterozygous state 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 gene (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 7 days after the end of study. For male, an effective method of contraception (sexual abstinence, condom) until 7 days after the end of study
- Signature of the legal representative
- Beneficiary of a social security coverage (affiliated or entitled)
You likely can't join if
- Patient with E3 deficiency due to pathogenic mutation in DLD gene
- Patient with planned hip or scoliosis surgery during the study timeframe
- Patient whose parents/legal representative refuse flu vaccine
- Patient with non-sense mutation on PDHB or DLAT gene, and male patient with non-sense mutation on PDHA1 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
See the full eligibility 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 at hemizygous or heterozygous state 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 gene (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 7 days after the end of study. For male, an effective method of contraception (sexual abstinence, condom) until 7 days after the end of study
- Signature of the legal representative
- Beneficiary of a social security coverage (affiliated or entitled)
- Patient with E3 deficiency due to pathogenic mutation in DLD gene
- Patient with planned hip or scoliosis surgery during the study timeframe
- Patient whose parents/legal representative refuse flu vaccine
- Patient with non-sense mutation on PDHB or DLAT gene, and male patient with non-sense mutation on PDHA1 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)
- History of hepatocellular insufficiency or renal insufficiency
- Pregnant or breastfeeding women
- Participation to another clinical interventional trial on medicinal products for human use
- Ketogenic diet and B1 vitamin introduced less than 3 months prior
The study team makes the final eligibility decision.
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 0-17 years, 18-64 years. The study team makes the final eligibility decision.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.