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

Launched by JIRAIR KRIKOR BEDOYAN · Mar 29, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a medication called triheptanoin to see if it can help children with a condition known as Pyruvate Dehydrogenase Complex (PDC) Deficiency. This condition affects how the body processes energy, and while triheptanoin is already approved for another type of metabolic disorder, researchers want to find out if it can also be beneficial for PDC Deficiency. The trial is currently looking for participants between the ages of 1 and 17 who have been diagnosed with this condition and are following a specific type of diet known as a ketogenic diet.

Participants in the trial can expect to receive the medication and be closely monitored for safety and how well it works. To join, kids need to be under 18, have a confirmed diagnosis of PDC Deficiency, and have a doctor managing their care. They should not be pregnant or breastfeeding and must be willing to follow the study guidelines. This study not only aims to find out if triheptanoin is effective for PDC Deficiency but also hopes to improve the care and treatment options available for children with this condition.

Gender

ALL

Eligibility criteria

• 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