This study focuses on Thymidine Kinase 2 Deficiency (TK2), which is a rare genetic condition affecting the body’s ability to produce energy in cells. The study will evaluate a combination treatment consisting of doxecitine and doxribtimine (also known as MT1621), which are pyrimidine nucleosides given as an oral solution.
The purpose of this research is to understand how safe and effective continued treatment with this medication combination is for patients who have previously received similar treatments for their TK2 deficiency. The medication will be given by mouth, with doses calculated based on the patient’s weight up to a maximum of 800 milligrams per kilogram per day.
During the study, which may last up to 72 months, participants will continue their current treatment while researchers monitor their health through various tests. The study will track how well patients tolerate the medication and observe any changes in their condition. Researchers will also measure how the medication moves through the bloodstream and assess its taste using a simple rating scale.



Spain