Actively Recruiting
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
Led by Jirair Krikor Bedoyan · Updated on 2026-02-17
6
Participants Needed
1
Research Sites
259 weeks
Total Duration
On this page
Sponsors
J
Jirair Krikor Bedoyan
Lead Sponsor
U
Ultragenyx Pharmaceutical Inc
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 1 year to less than 18 years
- Diagnosis of PDC Deficiency confirmed by genetic mutation in PDHA1, PDHB, DLAT, PDHX, or PDP1
- Clinical care followed by a metabolic physician prior to enrollment
- Not pregnant or lactating
- Parental permission and minor assent obtained with willingness to follow study procedures
- Not currently participating in other interventional clinical trials
- No history of gene therapy, organ transplant, or bone marrow transplantation
- Completed a 30-day washout period if previously on investigational drugs or therapies before starting study dosing
- Negative pregnancy test for females of childbearing age and agreement to use effective contraception or true abstinence during the study
- Currently following some form of ketogenic diet at the time of screening
You will not qualify if you...
- Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- Use of alcohol or drugs of abuse
- Liver disease indicated by AST or ALT levels greater than twice the upper limit of normal in the past 6 months
- Pregnant, breastfeeding, or lactating females
- Participation in other investigational product studies without completing a 30-day washout period
- History of gene therapy or organ or bone marrow transplantation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
Research Team
A
Angela Riemenschneider
CONTACT
J
Jirair Bedoyan, MD, PhD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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