Bradley Galer, MD, Chief Medical Officer at Zogenix, provides an overview of thymidine kinase 2 deficiency (TK2d).
TK2d, as Dr. Galer explains, 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. This deficiency thus leads to a general lack of mtDNA as well as poorly functioning mtDNA.
There are approximately 200 TK2d patients have been identified worldwide. In about 80% of these patients, the age of onset is under that age of12 years. For early-onset patients, symptoms tend to be more aggressive and is often fatal.
There is currently no targeted therapy for TK2d; however, Zogenix is currently developing MT1621, an investigational substrate enhancement therapy which has been demonstrated to be safe and effective in maintaining or improving motor function in TK2d patients.
To learn more about TK2d and other rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/