Center of Excellence in Batten Disease

Children’s Hospital Colorado’s Neurogenetic Pediatric Clinic was named a center of excellence for Batten disease, also known as neuronal ceroid lipofuscinosis. The Batten Disease Support, Research and Advocacy Foundation (BDSRA) awarded this designation to five programs in the nation, with Children’s Colorado as the only center of excellence in the Rocky Mountain region.

Batten disease is a lysosomal storage disorder characterized by abnormal accumulation of proteins and fats in the lysosomes. Fourteen different genes affect the function of the lysosome, and mutations on any of the genes may cause Batten disease. While early childhood is the most common time for symptoms to occur, a person can develop the disease at any time.

To qualify as a center of excellence, BDSRA requires clinics to provide comprehensive multidisciplinary care and services as established by the Batten Disease Center of Excellence Consortium. The Pediatric Neurogenetic Clinic, under the leadership of Medical Director Kourtney Santucci, MD, helps provide this specialized care through a team of more than 10 providers.

Through this national network of designated centers of excellence, BDSRA and Children’s Colorado will be able to advance clinical research, provide Batten-specific support and education and continue to provide the highest level of comprehensive care for individuals and families affected by the disease.