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

Condition(s) studied

Investigational drug(s) / intervention(s)

Natural History: Natural History and Clinical Follow Up.

Study 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

Primary outcome measure(s)

• 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. — Up to 30 years
  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. — Up to 30 years
  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).

Trial sites (1)

More Universitätsklinikum Hamburg-Eppendorf trials in Germany