AAV gene therapy for Tay-Sachs disease.

ABSTRACT: Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with safety as the primary endpoint and no secondary endpoints. Patient TSD-001 was treated at 30 months with an equimolar mix of AAVrh8-HEXA and AAVrh8-HEXB administered intrathecally (i.t.), with 75% of the total dose (1 × 10¹⁴ vector genomes (vg)) in the cisterna magna and 25% at the thoracolumbar junction. Patient TSD-002 was treated at 7 months by combined bilateral thalamic (1.5 × 10¹² vg per thalamus) and i.t. infusion (3.9 × 10¹³ vg). Both patients were immunosuppressed. Injection procedures were well tolerated

SUBMITTER: Flotte TR 

PROVIDER: S-EPMC10786171 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature