Triheptanoin for Children with Pyruvate Dehydrogenase Complex Deficiency
This study is testing a medication called triheptanoin for children aged 1 to 17 who have Pyruvate Dehydrogenase Complex (PDC) Deficiency. PDC Deficiency is a genetic condition that affects how the body uses energy. Triheptanoin is already approved for another condition, and researchers believe it might also help with PDC Deficiency. The study will look at how safe triheptanoin is and how well it works. Success in this study means fewer side effects, especially stomach problems, and that certain blood markers (lactate and pyruvate) return to normal levels after 24 months. The study plans to enroll 6 participants, but its current status is unclear.
- Study design
- This is an open-label study, meaning both you and the study team will know you are receiving triheptanoin. It plans to enroll 6 participants.
- What's involved
- You would participate in up to 10 visits over two years, with five visits at UPMC Children's Hospital of Pittsburgh and others potentially remote. All visits will include blood draws, and triheptanoin will be added to your diet at least four times a day.
- Compensation
- The medication triheptanoin will be provided at no cost. All other costs will be billed to your insurance.
- Follow-up
- The study will measure outcomes related to side effects and biochemical markers for 24 months.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
At a glance
Conditions
NCT06340685
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvaniano site contact published
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Jirair Bedoyan, MD, PhD · PRINCIPAL_INVESTIGATOR · UPMC Children's Hospital of Pittsburgh
Who to contact
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What this trial measures
- Number of participants who report side-effects related to gastrointestinal (GI) distress24 months
- Normalization of biochemical markers of disease (lactate)24 months
Change in lactate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
- Normalization of biochemical markers of disease (pyruvate)24 months
Change in pyruvate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/dl
- Normalization of biochemical markers of disease (β-hydroxybutyrate level)24 months
Change in β-hydroxybutyrate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
- Normalization of biochemical markers of disease (Alanine/Leucine ratio)24 months
Change in Alanine/Leucine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
- Normalization of biochemical markers of disease (Alanine/Lysine ratio)24 months
Change in Alanine/Lysine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
- Normalization of biochemical markers of disease (Alanine/Proline ratio)24 months
Change in Alanine/Proline ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
- More efficacious seizure control24 months
Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated
- More efficacious metabolic control24 months
Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated
- More efficacious disease control24 months
Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated