Clinical Applications of Adeno-Associated Virus Gene Therapy in Rare Diseases

Abstract

This paper provides a comprehensive overview of adeno-associated virus (AAV) gene therapy, a revolutionary approach that has shown promise in treating various genetic disorders. The therapy uses a harmless virus to deliver a functional copy of a defective gene to patient cells, thereby correcting the underlying congenital defect. AAV gene therapy is first discussed in the context of three specific diseases: Duchenne muscular dystrophy, Spinal Muscular Atrophy, and Huntington's disease. AAV gene therapy has been demonstrated to improve disease progression and patient quality of life in some cases, based on existing findings and arguments. In addition, we acknowledge the high cost of these therapies, which can range from $850,000 to $3,500,000, which limits their wide application. Although there are high costs associated with AAV gene therapy, the benefits, such as improved patient survival and quality of life, often outweigh them. Based on a study on the cost-effectiveness of AAV-mediated gene therapy for severe haemophilia B, the therapy was found to be more cost-effective than alternatives in most cases. Despite its potential for treating genetic disorders, AAV gene therapy poses a significant financial challenge due to its high cost. To make the therapy more accessible, future research should focus on reducing these costs. AAV gene therapy's long-term effects and safety require further investigation, as do its long-term safety concerns.