Trial of DCA in PDC Deficiency
What is the goal of the study?
This is a randomized, placebo-controlled, double-blind cross-over designed clinical trial (Phase A), with optional open-label continued access to investigational medication with every 6 month study assessments (Phase B), of 30 evaluable children, aged 6 months through 17 years, with confirmed genetic diagnosis of PDC deficiency. The study will begin with a 1 month lead-in period (no treatments) for baseline clinical data collection. Subjects will then be entered in a crossover design in which each subject receives DCA or placebo (P) by mouth or feeding tube for 4 months. This period will be followed by a 1 month washout period, during which all subjects will receive placebo, followed by crossover to the alternate treatment for 4 months. Following the conclusion of this crossover period, and providing the patient has not sustained serious adverse events attributable to DCA, the study participant is eligible to participate in the open-label continued access to investigational medication DCA at the same dose he or she was receiving during the blinded portion of the trial. Study participants will be dose stratified according to their predicted rate of DCA metabolism and clearance, based on genotyping prior to randomization. Study participants will continue whatever diet and other “standard of care” is deemed appropriate by local clinicians.
Who can participate in the study?
Please contact the study team listed below to learn more.