Overview
This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.
- 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.
- 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.
Description
NCLs (Neuronal Ceroid Lipofuscinoses) are a group of rare, inherited, neurodegenerative disorders, also known as Batten disease. Until now, 13 different genes causing different subtypes of disease are known. The genetic mutations cause a symptom complex of progressive loss of acquired skills in the domains of motor function, cognition and visual function, leading to ataxia, movement disorder, dementia, blindness and seizures. In the area of genetic testing, variable clinical phenotypes become more and more prevalent. The disease-mechanisms as well as the exact clinical course of the diseases are currently still not fully understood and documented. Although descriptions of the clinical spectrums exist, the natural history needs to be defined as accurately as possible. These data are urgently needed as clinical control data helping to test the therapeutic efficacy of emerging experimental therapies.
Since samples of genetically defined patients are rare and therefore limited for research, there is an urgent need for researchers to localize and access samples internationally. With the establishment of a local NCL-biorepository and virtual sample localization internationally, scientists worldwide may have a faster way to access needed samples for advancing research.
Any NCL patient with a confirmed molecular diagnosis can join the retrospective and prospective natural history data collection. It is also possible for families with already deceased patients to participate in the retrospective analysis part of the data collection if the genetic mutation is known.
Eligibility
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