NCT06340685

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

• Status: Recruiting
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 6 (estimated)
• Sponsor: Jirair Krikor Bedoyan · Academic / Other
• Sex: All
• Age: 1 Year – 17 Years
• Healthy volunteers: Not accepted

Summary

This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency. The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment PDC Deficiency. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with PDC Deficiency.

Detailed description

Participation in the study will require the patient to participate in up to 10 visits over a two-year period. Five of those visits must be done at the UPMC Children's Hospital of Pittsburgh (CHP). Other visits can take place at CHP or remotely. All of these visits will include blood draws. Triheptanoin will be added to the patients' diet and administered at least 4 times per day. The target dose will be 1.2-3.9 g of triheptanoin per kg body weight with a max goal dose of about 4 g/kg per day. The triheptanoin will be provided to the patients at no cost. All other costs will be billed to the patients' insurance.

Conditions

• Pyruvate Dehydrogenase Complex Deficiency

Interventions

Type	Name	Description
DRUG	Triheptanoin	Open-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin

Timeline

• Start date: 2024-07-11
• Primary completion: 2028-12-31
• Completion: 2029-06-30
• First posted: 2024-04-01
• Last updated: 2026-02-17

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study