Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses Capturing Key Symptoms and Disease Progression in the International NCL DEM-CHILD Patient Database

What this Trial Is About

This research aims to understand the natural history and progression of Neuronal Ceroid Lipofuscinoses (NCL), also known as Batten disease, which are rare inherited neurodegenerative disorders caused by mutations in various genes. These mutations lead to progressive loss of motor skills, cognition, vision, seizures, and behavior changes. The study seeks to document symptom development and disease progression more accurately to support testing of new experimental treatments and improve scientific knowledge. Participants include patients with genetically confirmed NCL diagnoses, covering multiple gene mutations such as CLN1 through CLN14. The study collects data through medical records, patient questionnaires, and routine clinical exams focused on motor, language, cognition, seizures, vision, and behavior. A local biorepository and an international virtual biorepository are established to facilitate access to patient samples for research. Families of deceased patients with known genetic mutations may also contribute retrospective data. During participation, researchers gather clinical information over time to identify key symptoms and develop tools for rating disease progression, with follow-up lasting up to 30 years. This includes establishing well-characterized natural history cohorts to serve as controls for future therapy trials. The study also collects and stores biological samples to support international research efforts. There is no treatment involved; instead, the focus is on observation and data collection to better understand NCL diseases.

Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database