Using triheptanoin to treat children with Pyruvate Dehydrogenase Complex Deficiency
An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
This study is testing if a medication called triheptanoin can help children with Pyruvate Dehydrogenase Complex Deficiency feel better and improve their health.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 6 (estimated) |
| Ages | 1 Year to 17 Years |
| Sex | All |
| Sponsor | University of Pittsburgh Academic / other |
| Locations | 1 site (Pittsburgh, Pennsylvania) |
| Trial ID | NCT06340685 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are children aged 1 to less than 18 years diagnosed with PDC Deficiency through genetic confirmation.
Not a fit: Patients who are pregnant, lactating, or have received gene therapy or organ transplants will not benefit from this study.
Why it matters
Potential benefit: If successful, this treatment could significantly improve metabolic function and quality of life for children with PDC Deficiency.
How similar studies have performed: While triheptanoin is FDA approved for other conditions, its application for PDC Deficiency is novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Pittsburgh, Pennsylvania
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.