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

Launched by UNIVERSITÄTSKLINIKUM HAMBURG-EPPENDORF · Oct 27, 2020

Keywords

ClinConnect Summary

This clinical trial is studying a group of inherited diseases known as Neuronal Ceroid Lipofuscinosis (NCL) or Batten Disease. The goal is to gather information about how these diseases progress over time. Researchers will collect data from patients' medical records, questionnaires, and regular check-ups, focusing on important areas like movement, language, thinking skills, seizures, vision, and behavior. Additionally, they will create a collection of biological samples from patients, which will help in understanding these diseases better and improve future treatments.

To participate in this study, patients must have a confirmed diagnosis of one of the NCL diseases. Specifically, for those with CLN2 Disease, they should be receiving a treatment called enzyme replacement therapy (ERT). The study is open to all ages and genders. Participants can expect to provide information about their health and undergo routine assessments as part of the research. This is an important opportunity to help researchers learn more about these conditions and potentially improve care for future patients.

Gender

ALL

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