Bradley Galer, MD, Executive Vice President and Chief Medical Officer, Zogenix, discusses MT1621, an investigational treatment for thymidine kinase 2 deficiency (TK2d).
TK2d is an ultra-rare genetic mitochondrial disease characterized by progressive myopathy, often leading to difficulty swallowing as well as respiratory and heart failure. TK2d is caused by an autosomal recessive genetic mutation in the TK2 gene. This mutation leads to a deficiency in TK2, an enzyme that is crucial in the production and maintenance of mtDNA. Currently, there are approximately 200 individuals with TK2d that have been identified worldwide. In about 80% of these patients, the age of onset is less than 12 years of age. For early-onset patients, symptoms tend to be more aggressive and the disease is often fatal. There is currently no targeted therapy for TK2d.
As Dr. Galer explains, MT1621 is a drug in development for the treatment of TK2d. MT1621 is a deoxynucleoside substrate enhancement therapy that aims to increase cellular function in TK2d patients by improving the number and health of mtDNA. In the phase 2 RETROspective study (NCT03701568), researchers examined the safety, effectiveness, and tolerability of MT1621. Results from this study indicated that MT1621 is well-tolerated, safe, and effective at improving or stabilizing TK2 deficiency.
To learn more about TK2d and other rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/