Rare Childhood Dementia Responds to Enzyme Therapy Infused Directly Into Brain | NEJM

An open-label study of 24 children with neuronal ceroid lipofuscinosis type 2 (CLN2) demonstrated efficacy of recombinant TPP1 (cerlonipase alfa) in slowing neurocognitive decline over a period of two years.

CLN2 is a progressive neurodegenerative disease resulting from lysosomal enzyme tripeptidyl peptidase 1 (TPP1) deficiency and accumulation of lysosomal products, leading to progressive motor and language decline beginning around age 5 and leading to death by adolescence.

Cerlonipase alfa was infused once every two weeks through a reservoir device surgically implanted under the scalp and catheter access to the cerebral ventricles.



Source: Study of Intraventricular Cerliponase Alfa for CLN2 Disease | NEJM