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
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Neuronal Ceroid Lipofuscinosis
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
- Enrollment
- 500
- Locations
- 1
- Primary Endpoint
- 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.
- Status
- Recruiting
- Last Updated
- 4 years ago
Overview
Brief Summary
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.
Detailed 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.
Investigators
Angela Schulz
MD, PhD, Head of NCL Specialty Clinic
Universitätsklinikum Hamburg-Eppendorf
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
Outcomes
Primary Outcomes
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.
Time Frame: 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.
Time Frame: 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).
Secondary Outcomes
- Establish a biorepository of samples from genetically defined NCL patients.(Up to 30 years)
- Establish a virtual biorepository from genetically defined NCL patients within the DEM-CHILD Database.(Up to 30 years)