Study of Motor, Behavioral, and Functional Changes in Batten Disease Using the Unified Batten Disease Rating Scale

What this Trial Is About

Researchers are investigating the natural history of Batten disease, also known as Neuronal Ceroid Lipofuscinosis, a genetic disorder that causes progressive cognitive and behavioral decline in children and adults. The study aims to gather detailed information about the motor, behavioral, and functional abilities of people with Batten disease and to improve the Unified Batten Disease Rating Scale UBDRS, a clinical tool designed to measure disease severity and progression. Participants with any form of Batten disease will be assessed using the UBDRS approximately once a year for up to 20 years. The study involves clinical and neuropsychological evaluations, including cognitive and behavioral assessments, adaptive function, quality of life measures, and vision tests. Assessments may take place at the University of Rochester Batten Center, annual meetings of the Batten Disease Support and Research Association, or remotely through televideo. During their involvement, participants will provide medical history, symptom details, medication use, and diagnostic test information. Researchers will monitor changes in physical health, seizures, behavior, and function annually using the UBDRS, along with cognitive and vision-related measures. The study may last up to 20 years, with some assessments continuing for up to 10 years, and aims to better understand disease progression and its impact on daily life.

Clinical and Neuropsychological Investigations in Batten Disease