Pyruvate Dehydrogenase Complex Deficiency Treatment With Dichloroacetate – Phase III

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency

Protocol Description

The purpose of this multi-center study is to determine whether an investigational drug, sodium dichloroacetate (DCA), affects the level of health and home function for patients with pyruvate dehydrogenase complex deficiency (PDCD). Investigators predict that DCA represents a potential targeted therapy for PDCD because of its ability to increase both the catalytic activity and stability of the enzyme complex.

Study Level: Phase III

Eligibility Criteria

Subject to certain exclusion criteria, the study accepts pediatric candidates ages 6 months through 17 years, who have PDCD and a known pathogenic mutation of a gene specifically associated with PDCD.
Males and Females: Ages 6 months through 17 years


Following initial screening and baseline visits, which will include a physical exam, various physical tests, and instructions for parents/guardians, enrolled participants will take the study drug for 4 months and a placebo for 4 months. Whichever is taken first is determined by randomization. Visits will be required at the end of each testing period, and a member of the study team will contact participants by telephone every two weeks throughout. Participants who complete both treatment periods with no adverse events attributable to DCA will be offered continued access to investigational medication through an open-label access program until the study concludes in June 2020.
Visits: 4
Duration: About 10 months

Status: Open to Enrollment

Source(s) of Support

Food and Drug Administration, Office of Orphan Products and Development
Medosome Biotec

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Danielle Black, BS