Seeking cures for mitochondrial disease

Pyruvate dehydrogenase complex (PDC) deficiency (PDCD) is a rare disease of mitochondrial energy failure in which the life of expectancy of affected children is severely truncated. Its prevalence in the U.S. is estimated to be in the low-mid hundreds. PDCD is the most common cause of congenital lactic acidosis (CLA) and leads typically to early death, either from unrelenting lactic acidosis and/or from progressive neurological and neuromuscular degeneration, due to cellular energy failure. Treatment of PDCD remains a serious, unmet, challenge. There has never been a controlled trial of any intervention for PDCD; thus, there is no proven therapy for affected patients.

Dichloroacetate (DCA) represents the first targeted therapy for PDCD. A limitation of DCA is that it is potentially neurotoxic, which limits its chronic administration. However, Drs. Stacpoole and Langaee of the University of Florida discovered that variation in a gene that encodes an enzyme that metabolizes (breaks down) DCA, strongly influences the risk of toxicity. From these results,  a simple genetic test was developed that identifies a person’s ability to metabolize DCA. This will allow establishing safe, personalized, dosing regimens for DCA for patients.

Dichloroacetate (sodium salt; DCA) has therapeutic potential in treating other common life-threatening diseases of children and adults. These include pulmonary arterial hypertension (PAH), diabetes, heart disease, cancer and cancer, and represent strategic areas for future company growth for genetically-based personalized dosing of DCA.

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