Pyruvate Dehydrogenase Complex DeficiencyPhase 1NCT06340685
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
A Phase 1 study testing Triheptanoin in people with Pyruvate Dehydrogenase Complex Deficiency, run by Jirair Krikor Bedoyan at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 17 years
- Conditions the study is for
- Pyruvate Dehydrogenase Complex Deficiency
- What is being tested?
- Triheptanoin
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Jul 2024to 30 Jun 2029
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 17 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Show all 10Show fewer
- Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation
- If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).
- 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.
- Subjects are following some form or type of ketogenic diet at the time of the screening visit.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Jirair Bedoyan, MD, PhD contact
United States1 site, 1 recruiting
- Recruiting
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Jirair Bedoyan, MD, PhD
Jirair Bedoyan, MD, PhD
About this study
Official title: An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
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.
Read the detailed description
Participation in the study will require the patient to participate in up to 10 visits over a two-year period. Five of those visits must be done at the UPMC Children's Hospital of Pittsburgh (CHP). Other visits can take place at CHP or remotely. All of these visits will include blood draws.
Triheptanoin will be added to the patients' diet and administered at least 4 times per day. The target dose will be 1.2-3.9 g of triheptanoin per kg body weight with a max goal dose of about 4 g/kg per day.
The triheptanoin will be provided to the patients at no cost. All other costs will be billed to the patients' insurance.
- Being tested
- Triheptanoin
- Keywords
- Pyruvate Dehydrogenase Complex Deficiency
- Medical subject headings
- Pyruvate Dehydrogenase Complex Deficiency Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TriheptanoinDrug
Also called Dojolvi
Open-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin
| Study group | Role | What they receive |
|---|---|---|
| Triheptanoin | Experimental | Open label study Receives: Drug: Triheptanoin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants who report side-effects related to gastrointestinal (GI) distress
Measured: 24 months
Normalization of biochemical markers of disease (lactate)
Change in lactate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
Measured: 24 months
Normalization of biochemical markers of disease (pyruvate)
Change in pyruvate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/dl
Measured: 24 months
Normalization of biochemical markers of disease (β-hydroxybutyrate level)
Change in β-hydroxybutyrate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
Measured: 24 months
Normalization of biochemical markers of disease (Alanine/Leucine ratio)
Change in Alanine/Leucine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
Measured: 24 months
Normalization of biochemical markers of disease (Alanine/Lysine ratio)
Change in Alanine/Lysine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
Measured: 24 months
Normalization of biochemical markers of disease (Alanine/Proline ratio)
Change in Alanine/Proline ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
Measured: 24 months
More efficacious seizure control
Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated
Measured: 24 months
More efficacious metabolic control
Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated
Measured: 24 months
More efficacious disease control
Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated
Measured: 24 months
Secondary outcomes (3)
Improved quality of life
Measured by a change in scores on the PedsQL, from before and after trihepatnoin is initiated
Measured: 24 months
Improved long-term maintenance and tolerance of diet
Measured by parental report of diet maintenance and tolerance, from before and after triheptanoin is initiated
Measured: 24 months
Improved quality of life
Measured by a change in scores on the MetabQoL, from before and after trihepatnoin is initiated
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2024
- Study start11 Jul 2024
- Primary completion31 Dec 2028 (estimated)
- Study completion30 Jun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pyruvate Dehydrogenase Complex DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jirair Krikor Bedoyan
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Sponsor-investigator, Jirair Krikor Bedoyan, University of Pittsburgh
- Investigators
- Jirair Bedoyan, MD, PhD, Principal investigator, UPMC Children's Hospital of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06340685
- Sponsor's protocol ID
- STUDY23050042
- Other IDs
- UX007-IST236
- Status last verified
- Feb 2026
- First submitted
- 22 Mar 2024
- Last updated
- 17 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
- ClinicalTrials.gov ID
- NCT06340685
- Acronym / sponsor ID
- STUDY23050042
- Keywords
- Pyruvate Dehydrogenase Complex Deficiency
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- Jirair Krikor BedoyanUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 11 Jul 2024 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 30 Jun 2029 (estimated)
- First posted
- 1 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Participation in the study will require the patient to participate in up to 10 visits over a two-year period. Five of those visits must be done at the UPMC Children's Hospital of Pittsburgh (CHP). Other visits can take place at CHP or remotely. All of these visits will include blood draws.
Triheptanoin will be added to the patients' diet and administered at least 4 times per day. The target dose will be 1.2-3.9 g of triheptanoin per kg body weight with a max goal dose of about 4 g/kg per day.
The triheptanoin will be provided to the patients at no cost. All other costs will be billed to the patients' insurance.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Triheptanoin | Experimental | Drug: TriheptanoinOpen label study |
Who may qualify
- Ages
- 1 year to 17 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (10 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TriheptanoinAlso: DojolviOpen-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin | Drug | Triheptanoin |
Primary outcome
Number of participants who report side-effects related to gastrointestinal (GI) distress
Time frame: 24 months
Normalization of biochemical markers of disease (lactate)
Time frame: 24 months
Change in lactate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
Normalization of biochemical markers of disease (pyruvate)
Time frame: 24 months
Change in pyruvate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/dl
Normalization of biochemical markers of disease (β-hydroxybutyrate level)
Time frame: 24 months
Change in β-hydroxybutyrate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L
Normalization of biochemical markers of disease (Alanine/Leucine ratio)
Time frame: 24 months
Change in Alanine/Leucine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
Normalization of biochemical markers of disease (Alanine/Lysine ratio)
Time frame: 24 months
Change in Alanine/Lysine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
Normalization of biochemical markers of disease (Alanine/Proline ratio)
Time frame: 24 months
Change in Alanine/Proline ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
More efficacious seizure control
Time frame: 24 months
Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated
More efficacious metabolic control
Time frame: 24 months
Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated
More efficacious disease control
Time frame: 24 months
Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated
3 secondary outcomes
Improved quality of life
Time frame: 24 months
Improved long-term maintenance and tolerance of diet
Time frame: 24 months
Improved quality of life
Time frame: 24 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Feb 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jirair Bedoyan, MD, PhD contact
Jirair Bedoyan, MD, PhD principal investigator
UPMC Children's Hospital of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Triheptanoin in people with Pyruvate Dehydrogenase Complex Deficiency, run by Jirair Krikor Bedoyan at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Angela Riemenschneider (412-692-5232, angela.riemenschneider@chp.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants who report side-effects related to gastrointestinal (GI) distress (time frame: 24 months). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Feb 2026.