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Tests treatment safety and results for Pyruvate Dehydrogenase Complex Deficiency Disease
Official title Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
ClinicalTrials.gov ID: NCT06887777
What this study is testing
What is Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]?
Glycerol Phenylbutyrate 1100 MG/ML [Ravicti] is an investigational medicine, given as a pill taken by mouth, being studied as a potential treatment for pyruvate dehydrogenase complex deficiency disease.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- 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).
- Phase 2: a mid-size study of how well it works
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 2 to 25
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 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
You likely can't join if
- 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
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 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...
- Signature of consent by 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 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
The study team makes the final eligibility decision.
Where it's taking place
- Paris, France, France
Compensation & support
A stipend or compensation may be offered.
Compensation mentioned.
ClinicalTrials.gov doesn't provide a reliable structured field for payment or travel support - confirm details with the study team.
Questions & answers
Do participants get paid in this trial?
This study's listing includes signals that participants may be compensated or receive a stipend. Amounts vary and are set by the study team - confirm the details with them.
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, 2 years to 25 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Paris, France, France. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.