AAN 2023 | Safety and efficacy of deoxycytidine and deoxythymidine in treatment of POLG-related disorders

Kenneth Myers, MD, PhD, FRCPC, Montreal Childrens Hospital, Montreal, Quebec, describes the results of an open-label trial for the treatment of POLG-related mitochondrial disease using deoxycytidine and deoxythymidine. POLG is a gene that encodes DNA polymerase-gamma, which is responsible for the synthesis of mitochondrial DNA (mtDNA), meaning that patients with POLG mutations have mitochondrial disorders with symptoms such as epilepsy, developmental regression, and headaches. Deoxycytidine and deoxythymidine are substrates in the pathway of mtDNA synthesis, so they are expected to increase mtDNA production. The open-label trial found no adverse effects or safety concerns. After 6 months of treatment with deoxycytidine and deoxythymidine, patients had significant improvement in Newcastle mitochondrial disease severity scale scores, and levels of growth differentiation factor 15 – a biomarker of mitochondrial health – increased to within a normal range. This highlights the potential of deoxycytidine and deoxythymidine to improve symptoms and quality of life of patients with POLG-related mitochondrial disease. This interview took place at the American Academy of Neurology Annual Meeting 2023 in Boston, MA.

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