Ken Maclean, PhD

Formate Treatment of Cystathionine Beta Synthase Deficient Homocystinuria

This project aims to address Cystathionine beta-synthase (CBS) deficient homocystinuria (HCU), a life-threatening metabolic disorder resulting in the toxic buildup of homocysteine. Current treatments involving dietary restrictions and betaine have limitations in effectively controlling homocysteine levels and require unpleasant medical foods. The researchers have discovered that combining sodium formate and betaine treatment can significantly reduce homocysteine levels in HCU mice on a normal protein diet, presenting a major breakthrough in treatment. Several pharmaceutical companies have shown interest in commercializing this discovery. The project's milestones include determining the optimal concentration of sodium formate, its effectiveness in lowering homocysteine in tissues, analyzing relevant folate species, and exploring alternative formate donors for lowering homocysteine in HCU mice. Collaborator: Taranagulla Ventures

Learn more about Dr. Maclean