Developing life-changing gene therapies
Late-infantile neuronal ceroid lipofuscinosis Type 2 (or CLN2 disease), one of the most common forms of Batten disease, is a rare genetic disorder caused by a mutation in the gene that is responsible for making tripeptidyl peptidase (TPP1), an enzyme needed to break down specific peptides associated with cellular waste.
A decrease in TPP1 activity results in the accumulation of storage material in cells, particularly in the central nervous system (CNS). As the waste product accumulates, it can cause damage to cells and tissues including the brain.
Disease onset is generally between two to four years of age with initial features of recurrent seizures (epilepsy), language delay, and difficulty coordinating movements (ataxia). Following onset, the disease progresses rapidly resulting in loss of language and motor functions, seizures, cognitive decline, vision loss, and premature death by mid-childhood.
There is currently no cure for CLN2 disease or treatment that targets the underlying genetic disorder. Our investigational therapy, RGX-181, is designed to use the AAV9 vector to deliver the TPP1 gene directly to the CNS via a one-time administration. We believe that once the AAV9 vector delivers the gene to cells, the cells can begin making the needed TPP1 enzyme, potentially preventing neurological decline and other manifestations of the disease.
We are currently in the preclinical phase of development. We expect to submit an investigational new drug (IND) application to the U.S. Food and Drug Administration (FDA) for RGX-181 in the second half of 2020 to enable initiation of a first-in-human clinical trial for children with CLN2 disease.