On February 10, Xuntian Jiang, PhD and collaborators had their research titled, “AAV gene therapy for Tay-Sachs disease,” published in “Nature Medicine.”
Tay-Sachs disease (TSD) is defined as an inherited neurological disorder caused by deficiency of hexosaminidase A.
The study assesses two patients with infantile TSD in an adeno-associated virus (AAV) gene therapy expanded-access trial, who each received different treatment methods. The treatment results showed that patient one remained “seizure-free at 5 years of age on the same anticonvulsant therapy.” Patient two showed disease stabilization by 3 months but disease progression after 6 months of treatment. Also, developing anticonvulsant-responsive seizures at 2 years of age.
In conclusion, Jiang and collaborators state that the trial “provides early safety and proof-of-concept data in humans for treatment of patients with TSD by AAV gene therapy.”