Using triheptanoin to treat children with Pyruvate Dehydrogenase Complex Deficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study investigates the safety and efficacy of triheptanoin, a medication currently approved for Long-Chain Fatty Acid Oxidation Disorders, in treating children with Pyruvate Dehydrogenase Complex (PDC) Deficiency. Participants will attend up to 10 visits over two years, with five visits at UPMC Children's Hospital of Pittsburgh, where they will undergo blood draws and dietary adjustments involving triheptanoin. The medication will be administered at least four times daily, with dosages tailored to the patient's weight. The study aims to provide insights into the potential benefits of triheptanoin for this specific metabolic condition.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Age 1 year to \<18 years of age
2. Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study
3. Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation
4. Not pregnant or lactating
5. Parental permission and assent of minor and willingness to comply with study procedures
6. Not participating in any interventional treatment clinical trials
7. Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation
8. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).
9. 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.
10. Subjects are following some form or type of ketogenic diet at the time of the screening visit.

Exclusion Criteria:

1. Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD)
2. Use of alcohol or drugs of abuse
3. Evidence of liver disease as defined by elevations of AST or ALT \>2x ULN in the past 6 months
4. Pregnant, breastfeeding, or lactating females
5. 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's running

• UPMC Children's Hospital of Pittsburgh
  Pittsburgh, Pennsylvania, United States Recruiting

Study contacts

• Principal investigator: Jirair Bedoyan, MD, PhD — UPMC Children's Hospital of Pittsburgh
• Study coordinator: Angela Riemenschneider
• Email: angela.riemenschneider@chp.edu
• Phone: 412-692-5232

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.