Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
Trial statusRecruiting
Trial phasePhase 1
Trial typeInterventional
Biological sexAll
Age1-17
SponsorJirair Krikor Bedoyan
About this trial
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.
Eligibility criteria
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Triheptanoin
Treatment groups
6 Participants
are divided into 1 treatment groupSponsors and collaborators
Jirair Krikor Bedoyan
Lead sponsor
University of Pittsburgh
Sponsor institution
Ultragenyx Pharmaceutical Inc
Collaborator
Source ClinicalTrials.gov