Gene therapy for CLN2 disease

Abstract

Gene Therapy Late infantile Batten disease (CLN2 disease), a pediatric progressive brain disorder, is currently treated by infusion of human recombinant tripeptidyl peptidase 1 (TPP1) into the cerebrospinal fluid every other week, which slows but does not halt progression of the disease. Sondhi et al. sought an alternative treatment using gene therapy. They injected an adeno-associated virus vector enabling expression of the normal human coding sequence for the CLN2 gene directly into the brain parenchyma of children with the disease. Progression of CLN2 was slowed in treated children but not to the same degree as in those treated with recombinant TPP1. Further improvements in gene therapy are needed before the progression of CLN2 disease can be halted. Sci. Transl. Med. 12 , eabb5413 (2020)