Gene therapy for thymidine kinase 2 (TK2) deficiency
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.
Unmet Need: Effective therapy for mitochondrial DNA depletion syndromes
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.
The Technology: Gene therapy for thymidine kinase 2 (TK2) deficiency-associated mitochondrial disease
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.
Applications:
- Gene therapy for TK2 deficiency-associated mitochondrial diseases
- Development of assays for diagnosis and/or prediction of treatment efficacy for TK2 deficiency-associated mitochondrial diseases
- Strategy for development of therapies for other metabolic disorders
- Prevention of various disorders of mitochondrial DNA depletion
Advantages:
- Potentially effective therapy for TK2 deficiency
- Compatible with other pharmacological therapies
- Single treatment to cure, treat, or prevent mitochondrial DNA depletion disorders
- Rescues disease comorbidities
- Established pathway for developing other AAV vector gene therapies
Lead Inventor:
Patent Information:
Related Publications:
Tech Ventures Reference:
IR CU18199
Licensing Contact: Kristin Neuman