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

Recruiting now · Phase 1

Conditions studied: Pyruvate Dehydrogenase Complex Deficiency

In brief

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.

Key facts

Study ID: NCT06340685
Run by: Jirair Krikor Bedoyan
People needed: 6
Starts: 2024-07-11
Expected to finish: 2029-06-30
Last updated by the study team: 2026-02-17

Who can join

Age: 1 and older, up to 17. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

Age 1 year to <18 years of age
Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study
Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation
Not pregnant or lactating
Parental permission and assent of minor and willingness to comply with study procedures
Not participating in any interventional treatment clinical trials
Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation
If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).
Negative pregnancy test for all female patients of childbearing age. Individuals of childbearing potential must agree to use a highly effective method of contraception, and males must agree not to father a child or donate sperm. True abstinence for the duration of the study will also be accepted.
Subjects are following some form or type of ketogenic diet at the time of the screening visit.

You may not qualify if…

Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD)
Use of alcohol or drugs of abuse
Evidence of liver disease as defined by elevations of AST or ALT >2x ULN in the past 6 months
Pregnant, breastfeeding, or lactating females
On any investigational product research study (and not completed the required 30-day washout period prior to Intake \& Dosing) or recipient of gene therapy or organ or bone-marrow transplantation

Where it is running

UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (enrolling)

Full record on ClinicalTrials.gov

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