Status:
NOT_YET_RECRUITING
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Pyruvate Dehydrogenase Complex Deficiency Disease
Eligibility:
All Genders
2-25 years
Phase:
PHASE2
Brief Summary
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 phenyl...
Detailed Description
PDH deficiencies are mainly characterized by primary lactic acidosis associated with neurological disorders. The diagnosis is suspected in the presence of an increase of pyruvate and lactate with a no...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
May 1 2025
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2026
Estimated Enrollment :
15 Patients enrolled
Trial Details
Trial ID
NCT06887777
Start Date
May 1 2025
End Date
December 1 2026
Last Update
May 2 2025
Active Locations (1)
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1
Hôpital Universitaire Necker - Enfants Malades
Paris, France, France, 75015