ReGenX

Batten Disease

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a form of Batten Disease, a rare, inherited neurodegenerative disease affecting children, which is fatal by 8 – 12 years of age. It is characterized by cognitive impairment, progressive vision loss, seizures, and deteriorating motor function. It is caused by mutations in the CLN2 gene which encodes tripeptidyl-peptidase I (TPP-1).

Therapeutic Application

Gene therapy for LINCL is designed to transfer a normal copy of CLN2 into the brain, which is anticipated to slow or stop the neuronal degeneration.

Status

Weill Medical College of Cornell University is sponsoring a Phase 1 clinical trial testing the safety of AAVrh.10 encoding the CLN2 gene, injected directly into the brain of patients. A total of 16 patients will be dosed in this clinical trial, with two different dose levels of vector.