EMA has recommended granting a marketing authorisation in the European Union for Kygevvi (doxecitine and doxribtimine) in patients with genetically confirmed thymidine kinase 2 deficiency (TK2d) whose disease started at or before 12 years of age.

TK2d is a rare, life-threatening genetic disease that affects fewer than 1 in 1,000,000 people and for which there is no authorised treatment. Current care is limited to supportive measures such as providing nutrition through a feeding tube, supporting movement through physiotherapy and helping with breathing using a ventilator.

TK2d is caused by mutations in the thymidine kinase 2 (TK2) gene. These mutations prevent the TK2 enzyme, which helps produce and maintain mitochondrial DNA, from working properly. As a result, mitochondria cannot function correctly and muscles cannot produce enough energy, leading to progressive myopathy (muscle weakness), loss of motor function and the ability to walk, breathing difficulties and a shortened…