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Could a Fatty-Acid drug help kids with rare energy disorder?

NCT ID NCT06340685

Disease control Sponsor: Jirair Krikor Bedoyan Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This early study is testing a drug called triheptanoin (Dojolvi) in children with pyruvate dehydrogenase complex (PDC) deficiency, a rare genetic condition that affects energy production. The trial will enroll 6 children aged 1 to 18 and look at safety, side effects, and changes in blood markers like lactate. It is an open-label, proof-of-concept study, meaning everyone gets the drug and the main goal is to see if it is safe and worth studying further.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
triheptanoin (Dojolvi)
What this could lead to
If it works, this could point toward a treatment option for PDC deficiency, a rare metabolic disorder.
What could go wrong
This is a very small, early-phase study with only 6 participants. It is designed to test safety and biological signals, not to prove effectiveness. The drug may not improve symptoms or could cause side effects like stomach upset.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1

The first testing in people. Mainly checks safety and dose, usually in a small group.

Participants

About 6 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2024

Expected to finish

Jun 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

1 year to 17 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

Pyruvate Dehydrogenase Complex Deficiency Disease pyruvate dehydrogenase E1-alpha deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Pyruvate dehydrogenase complex deficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • UPMC Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.