Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

NCT06340685 | Recruiting Phase 1 FDA Drug

• 2 other identifiers: STUDY23050042UX007-IST236
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pyruvate Dehydrogenase Complex Deficiency

Keywords

Pyruvate Dehydrogenase Complex Deficiency

Outcome Measures

Primary Outcomes (10)

• Number of participants who report side-effects related to gastrointestinal (GI) distress

  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

  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

  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

  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

  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

  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

  24 months

• More efficacious seizure control

  Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated

  24 months

• More efficacious metabolic control

  Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated

  24 months

• More efficacious disease control

  Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated

  24 months

Secondary Outcomes (3)

• Improved quality of life

  24 months

• Improved long-term maintenance and tolerance of diet

  24 months

• Improved quality of life

  24 months

Study Arms (1)

Triheptanoin

EXPERIMENTAL

Open label study

Drug: Triheptanoin

Interventions

Triheptanoin DRUG

Open-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin

Also known as: Dojolvi

Triheptanoin

Eligibility Criteria

• Age: 1 Year - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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
• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: collaborator
• Jirair Krikor Bedoyan: lead

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

MeSH Terms

Conditions

Pyruvate Dehydrogenase Complex Deficiency Disease

Interventions

triheptanoin

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Study Officials

• Jirair Bedoyan, MD, PhD

  UPMC Children's Hospital of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Angela Riemenschneider

CONTACT

412-692-5232; angela.riemenschneider@chp.edu

Jirair Bedoyan, MD, PhD

CONTACT

bedoyanjk@upmc.edu

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor of Pediatrics

Study Record Dates

• First Submitted: March 22, 2024
• First Posted: April 1, 2024
• Study Start: July 11, 2024
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): June 30, 2029
• Last Updated: February 17, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)