recombinant human palmitoyl-protein thioesterase 1

Batten CLN1 ERT (recombinant human palmitoyl-protein thioesterase 1) is an enzyme replacement therapy (ERT) being developed by Collaborations Pharmaceuticals for the treatment of CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis (INCL). CLN1 is a rare, fatal neurodegenerative lysosomal storage disorder caused by mutations in the *PPT1* gene, which results in a deficiency of the enzyme palmitoyl-protein thioesterase 1. This deficiency leads to the accumulation of palmitoylated proteins (ceroid lipofuscin) in neurons, causing progressive neurodegeneration, vision loss, and cognitive decline. The therapy aims to restore enzymatic activity by delivering a functional recombinant version of the PPT1 enzyme, typically via intrathecal administration to bypass the blood-brain barrier. The program has received Orphan Drug Designation from the FDA and is currently in the IND-enabling phase.

Other names

batten CLN1 ERTrhPPT1rhPPT-1rhPPT 1PPT1 enzyme replacement therapyPPT-1 enzyme replacement therapyPPT 1 enzyme replacement therapy