Glycerol phenylbutyrate for Pyruvate dehydrogenase deficiency

Inclusion criteria

• {"criterion_text":"- Child from 2 to 17 years of age or Adult from 18 to 25 years of age\n- 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)\n- 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\n- Signature of the legal representative\n- Beneficiary of a social security coverage (affiliated or entitled)"}

Exclusion criteria

• {"criterion_text":"- Patient with E3 deficiency due to pathogenic mutation in DLD gene\n- Patient with planned hip or scoliosis surgery during the study timeframe\n- Patient whose parents/legal representative refuse flu vaccine\n- Patient with non-sense mutation on PDHB or DLAT gene, and male patient with non-sense mutation on PDHA1 gene\n- Treatment change during the last 3 months prior inclusion (ketogenic diet and/or B1 vitamin\n- Hypersensitivity to Glycerol Phenylbutyrate or to any of the excipients\n- No disease requiring Glycerol Phenylbutyrate (Hyperammonemia due to urea cycle disease or other aetiology)\n- History of hepatocellular insufficiency or renal insufficiency\n- Pregnant or breastfeeding women\n- Participation to another clinical interventional trial on medicinal products for human use\n- Ketogenic diet and B1 vitamin introduced less than 3 months prior"}

Primary endpoints

• {"endpoint_text":"- The efficacy of Glycerol Phenylbutyrate treatment on fatigue at 6 months will be evaluated by the Pediatric Quality of Life Inventory™ Multidimensional Fatigue Scale (PedsQL™ MFS, appendix 4 to 6). Difference between the total score at M0 and M6 will be calculated. Improving the overall score of 20% between M0 and M6 will reflect the impact of treatment on fatigue (success of the treatment).","definition_or_measurement_approach":"Assessment using the Pediatric Quality of Life Inventory™ Multidimensional Fatigue Scale (PedsQL™ MFS). Difference between total score at baseline (M0) and at 6 months (M6) will be calculated; an improvement of 20% between M0 and M6 is defined as treatment success."}

France

Earliest CTIS Part Ii Submission Date

04-03-2025

Latest Decision Or Authorization Date

07-04-2026

Processing Time Days

399

Number Of Sites

5

Number Of Participants

15

Primary sponsor

Full Name

Assistance Publique Hopitaux De Paris

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

France