Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

► PPT1 knockout mice received intravenous weekly human PPT1 from birth or age 8 weeks. ► The treatment was well tolerated without anaphylaxis or antibody formation. ► Survival increased and motor deterioration was delayed in mice treated from birth. ► Substantial clearance of autofluorescent storage from visceral organs was observed.