Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
J SchaefersL J van der GiessenC KleesE H JacobsS SieverdinkM H G DremmenJ K H SpoorA T van der PloegJ M P van den HoutHidde H HuidekoperPublished in: Orphanet journal of rare diseases (2021)
We show that cerliponase alfa is able to delay the onset of symptoms when treatment is started in a presymptomatic stage of CLN2 disease. Our results advocate the start of treatment at an early age before symptom onset, but should be confirmed in a larger cohort study.