Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
⁃ \- Patients with a confirmed molecular diagnosis of a form of NCL Disease
• Previous or current treatment with intracerebroventricular ERT with cerliponase alpha
• Patients that are currently participating in post-marketing studies will be allowed to participate.
Locations
Other Locations
Germany
University Medical Center Hamburg-Eppendorf
RECRUITING
Hamburg
Contact Information
Primary
Miriam Nickel, MD
m.nickel@uke.de
+4940741020440
Backup
Angela Schulz, MD, PhD
anschulz@uke.de
+4940741020440
Time Frame
Start Date:2020-04-08
Estimated Completion Date:2050-04-08
Participants
Target number of participants:500
Treatments
CLN1 Disease, Haltia-Santavuori Disease
Patients with genetic mutations in the CLN1/PPT1 gene, causing a lysosomal enzyme deficiency of PPT1.
CLN2 Disease, Jansky-Bielschowsky Disease
Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1.
CLN2 Disease - ERT (Brineura) treated
Patients with genetic mutations in the CLN2/TPP1 gene, causing a lysosomal enzyme deficiency of TTP1, previously and/or currently receiving enzyme-replacement therapy (ERT) with Cerliponase alpha (Brineura).