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.
• 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.