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.
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.
None
Children, Adolescents, Adults
Other
Other
Natural History
Other interventionNatural History and Clinical Follow Up.
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Treatment groupsSee each treatment group below.
Identification of key symptoms of disease, natural history of disease progression and development of quantitative tools for rating disease progression that can be used as therapeutic outcome measures for emerging experimental therapies.
Evaluation of Medical history from patient interviews and medical chart review. Evaluating data from clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Establish well characterized Natural History Cohorts from genetically defined NCL patients to provide these as Natural History Control Cohorts for new experimental therapy trials.
Analysis of retrospective and prospective data from patient interviews and medical chart review as well as clinical routine follow up exams (e.g. brain imaging MRI, ophthalmologic assessments, OCT, EEG, cardiology assessments, cognitive assessments, developmental scales, clinical rating scales).
Establish a biorepository of samples from genetically defined NCL patients.
\- Collection of biospecimens that have been collected within treatment as part of standard of care.
Establish a virtual biorepository from genetically defined NCL patients within the DEM-CHILD Database.
Datacollection of available biospecimens from genetically defined NCL patients and the collecting center contacts within the DEM-CHILD DB.
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