Angela Schulz, Temitayo Ajayi, Nicola Specchio, Emily de Los Reyes, Paul Gissen, Douglas Ballon, Jonathan P Dyke, Heather Cahan, Peter Slasor, David Jacoby, Alfried Kohlschütter
Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children. Methods In a multicenter, open-label study, we evaluated the effect of intraventricular infusion of cerliponase alfa every 2 weeks in children with CLN2 disease who were between the ages of 3 and 16 years. Treatment was initiated at a dose of 30 mg, 100 mg, or 300 mg; all the patients then received the 300-mg dose for at least 96 weeks...
April 24, 2018: New England Journal of Medicine