Bench to bedside: CABM research leads to a new drug
for a fatal neurodegenerative childhood disease.
The CLN2, or late infantile, form of Batten Disease is a rare but devastating disorder caused by mutations in the gene encoding the lysosomal enzyme tripeptidyl peptidase I (TPP1). Patients typically become symptomatic between the ages of 2 and 4 and rarely survive into their teens. Until now there has been no effective treatment for this disease; symptoms are managed through the use of anti-epileptic drugs and physical, speech, and occupational therapies. CABM researchers Peter Lobel and David Sleat discovered the cause of CLN2 and developed a method to treat the disease using recombinant TPP1. This technology was exclusively licensed to BioMarin, a biopharmaceutical company that develops and commercializes treatments for serious diseases. In Spring 2017, BioMarin received approval in the United States by the FDA and in Europe by the EMA to administer recombinant TPP1 (termed “Brineura”) to CLN2 patients.