In this video, Dr MartÍ will describe the different steps of the development of a treatment for a disease called TK2-related Mitochondrial DNA Depletion Syndrome, TK-2 deficiency in short (TK2d).

Currently, this treatment is licensed by a biopharmaceutical company which is conducting the last clinical phase (Phase 3) required to obtain the Marketing Authorization from the Regulatory Agencies (FDA and EMA) to administrate it to TK2d patients in the US and EU.

Only a few drug development projects achieve all the milestones until demonstrating efficacy and safety in late phases of clinical trials, but this project has overcome all the preclinical and clinical steps until clinical phase 3. Thus, this is an inspiring example to go through the translational medicine process.

TK 2 deficiency is a rare disease which results in severe myopathy and is caused by a deficiency of the enzyme Thymidine Kinase 2 (TK2). TK2 is responsible for delivering the mitochondrial DNA (mtDNA) precursors dTTP and dCTP. The lack of this enzyme function results in a decrease in the copy number of DNA, called mitochondrial DNA depletion.

See also: Why is Natural History so important in rare diseases?