What is Batten Disease?

Batten Disease is a genetic disease caused by an autosomal recessive mutation. Patients are missing an enzyme or have mutations in human palmitoyl-protein thioesterase-1 (PPT1) The infantile onset form termed CLN1 disease is characterized by progressive intellectual and motor deterioration, seizures, loss of vision, and early death. There is currently no treatment for CLN1.

What is an enzyme replacement therapy?

An enzyme replacement therapy (ERT) is the delivery of a copy of the human protein that is missing in the patient. In the case of CLN1, we are developing an ERT that is recombinant human palmitoyl-protein thioesterase-1 (rhPPT1). This ERT will be delivered to the brain of the patient at regular intervals for their life.

Collaborations Pharmaceuticals

Collaborations Pharmaceuticals Website: https://www.collaborationspharma.com Our paper on CLN1 ERT: - https://www.jci.org/articles/view/163107