Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Trial Parameters
Brief Summary
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database. 1. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior. 2. A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.
Eligibility Criteria
Inclusion Criteria: \- Patients with a confirmed molecular diagnosis of a form of NCL Disease Additional inclusion criteria for Group/Cohort: "CLN2 Disease - ERT (Brineura) Treated": * Documented diagnosis of TPP1 deficiency * Previous or current treatment with intracerebroventricular ERT with cerliponase alpha * Patients that are currently participating in post-marketing studies will be allowed to participate. Exclusion Criteria: \- Patients with no confirmed molecular diagnosis of a form of NCL Disease