This technology is a gene therapy strategy to treat TK2 deficiency-associated mitochondrial DNA depletion syndromes with an engineered adenovirus-associated viral (AAV) vector to deliver a functioning TK2 gene.
Mitochondrial diseases are a clinically heterogenous group of long-term, genetic and often fatal diseases that occur when mitochondria fail to function properly. Mutations in mitochondrial enzyme thymidine kinase 2 (TK2) have been identified in groups of patients with deficient TK2 activity, who suffer from a wide spectrum of clinical phenotypes that often present in early childhood with devastating clinical phenotypes. Despite advancements in understanding the molecular mechanisms that drive dysfunction, there are currently no effective treatments for TK2 deficiency-associated mitochondrial DNA depletion syndromes.
This technology is a gene therapy strategy for TK2 deficiency-associated mitochondrial diseases. Using an engineered AAV9 vector, mutant TK2 gene can be replaced with a normal, functional TK2 gene. This technology presents a promising therapeutic approach for treating the underlying, disease-causing mutations in TK2 deficiency-associated mitochondrial diseases, with potential therapeutic applications to other metabolic disorders.
This technology has been validated in TK2 mutant mice, where it has been shown to prolong lifespan and improve motor function.
IR CU18199
Licensing Contact: Kristin Neuman
