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

Description

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

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Study Overview

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Study Details

Study overview

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.

An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin As Treatment for Patients with Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

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

Condition
Pyruvate Dehydrogenase Complex Deficiency
Intervention / Treatment

-

Contacts and Locations

Pittsburgh

UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States, 15224

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • 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

Ages Eligible for Study

1 Year to 17 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Jirair Krikor Bedoyan,

Jirair Bedoyan, MD, PhD, PRINCIPAL_INVESTIGATOR, UPMC Children's Hospital of Pittsburgh

Study Record Dates

2027-06-30