Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
Schaefers J, van der Giessen LJ, Klees C, Jacobs EH, Sieverdink S, Dremmen MHG, Spoor JKH, van der Ploeg AT, van den Hout JMP, Huidekoper HH
Orphanet journal of rare diseases, 2021 05 14
Abstract
Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now available and has shown to delay disease progression in symptomatic patients. It is yet unknown if cerliponase alfa can prevent disease onset in presymptomatic patients.