Batten Disease Clinical Research Consortium - OVERALL – PROJECT ABSTRACT The neuronal ceroid lipofuscinoses (NCLs, Batten diseases) are rare, pediatric neurodegenerative diseases that result from pathogenic variants in at least 13 different genes. Characterized by abnormal intracellular accumulation of lipopigment and neurodegeneration, these diseases manifest with severe symptoms of blindness, motor dysfunction, dementia, and epilepsy, but differ in age at disease onset, symptom evaluation, and survival. Effective disease-targeted treatments are lacking for all but one NCL disease. This application proposes to establish a Batten Disease Clinical Research Consortium (BDCRC) to address trial- readiness gaps and key clinical and translational research needs in the NCLs in order to optimally and efficiently advance development of novel therapies. The BDCRC will collaboratively address critical roadblocks to the design and implementation of clinical trials through multi-center partnerships between academic centers of excellence in NCL care and research, leading advocacy organizations, and the Rare Disease Clinical Research Network (RDCRN). The BDCRC mission is to establish and maintain a multi-site clinical and translational research program that drives rigorous and reproducible science, high data quality, operational efficiency, and strong community partnership, in service of creating novel NCL therapies, continuously improving care standards, and advancing knowledge. To create a strong foundation for NCL research, the BDCRC aims to: 1) develop an administrative structure to support and facilitate its activities, 2) meaningfully partner with the NCL community, 3) integrate with broader RDCRN, 4) train the next generation of NCL clinician-scientists, 5) select and support NCL pilot studies, 6) characterize NCL natural history and develop sensitive tools for clinical trials, and 7) launch a national NCL biorepository.
