Developing a novel therapy for CLN3 disease-associated neurological deficits (RPA Pilot or Seed Projects)

CLN3 disease (aka., juvenile Batten disease or juvenile neuronal ceroid lipofuscinosis) is a devastating pediatric neurodegenerative disease due to mutations in the CLN3 gene. Children with CLN3 disease start normally until reaching 4-5 years old when they suddenly develop progressive blindness, seizures, sleep abnormalities, and cognitive and motor failures. They later become wheelchair-bound and need feeding tubes prior to premature death. Despite the devastation of this disease for both affected children and their families as well as the heavy socioeconomic burden that it poses, a cure is not available. Current treatment is solely based on managing symptoms without either targeting the actual disease or slowing its progression. Therefore, there is an urgent need for interventions that delay advancement, reduce severity, or cure this disease.