Weill Cornell Medical Center and New York-Presbyterian Hospital researchers have found that gene therapy slows down the progression of a rare, deadly genetic brain disease: late infantile neuronal ceroid lipofuscinosis (LINCL).

Children with LINCL are missing a working copy of CLN2, a gene whose protein helps lysosomes–the cell’s garbage-disposing structures–break down a waste product called lipofuscin. As a result, lipofuscin builds up and eventually destroys neurons, causing the brain to shrink. Children with LINCL usually die by age 8 to 12.

The researchers modified a harmless virus to carry a good copy of CLN2 and gave the virus to ten children with the disease. On measures of motor function, language, and seizure frequency, the children appeared to deteriorate more slowly compared with untreated patients.