Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency (NCT06340685) | Clinical Trial Compass
RecruitingPhase 1
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
United States6 participantsStarted 2024-07-11
Plain-language 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.
Who can participate
Age range
1 Year – 17 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. 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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of participants who report side-effects related to gastrointestinal (GI) distress
Timeframe: 24 months
2
Normalization of biochemical markers of disease (lactate)
Timeframe: 24 months
3
Normalization of biochemical markers of disease (pyruvate)
Timeframe: 24 months
4
Normalization of biochemical markers of disease (β-hydroxybutyrate level)
Timeframe: 24 months
5
Normalization of biochemical markers of disease (Alanine/Leucine ratio)
Timeframe: 24 months
6
Normalization of biochemical markers of disease (Alanine/Lysine ratio)
Timeframe: 24 months
7
Normalization of biochemical markers of disease (Alanine/Proline ratio)
. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).
Exclusion criteria
. 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