Research ArticleGene Therapy

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

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Science Translational Medicine  02 Dec 2020:
Vol. 12, Issue 572, eabb5413
DOI: 10.1126/scitranslmed.abb5413

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Gene therapy for CLN2 disease

The current treatment for CLN2 disease, caused by mutations in the CLN2 gene, is 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 and colleagues sought an alternative treatment through gene therapy. They injected an adeno-associated virus vector expressing the normal human CLN2 coding sequence directly into the brain parenchyma of children with the disease. Progression of the disease was slowed in treated children but not to the same degree as recombinant TPP1. Further improvements in gene therapy are needed before progression of CLN2 disease can be halted.

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