The Bespoke Gene Therapy Consortium: facilitating development of AAV gene therapies for rare diseases

摘要

According to recent estimates, there are more than 10,000 known human diseases that are considered rare - defined as affecting fewer than 200,000 people in the USA1. Collectively, these diseases affect upwards of 450 million people worldwide2. About 80 of rarediseases are monogenic, in which known alterations in a singlegene are respon-siblefor the clinical manifestations that result in significant morbidity and mortality. Monogenic diseases are potential candidates for gene therapies because the defective gene can be corrected or replaced, thereby restoring gene function to levels that show clinical benefit and arresting or reversing the disease state. Adeno-associated virus (AAV) gene therapies have the potential to provide long-term benefit for patients with diseases for which there currently are no treatments -a prospect that would be transformational in the treatment of many serious and life-threatening rare disorders3. However, many of these disorders are so rare, and the cost of development of gene therapy treatments is so high, that they are currently of no commercial interest.