NCT04613089

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

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
• Phase: —
• Study type: Observational
• Enrollment: 500 (estimated)
• Sponsor: Universitätsklinikum Hamburg-Eppendorf · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

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.

Conditions

• Neuronal Ceroid Lipofuscinosis
• Batten Disease
• CLN1 Disease
• CLN2 Disease
• CLN3 Disease
• CLN4 Disease
• CLN5 Disease
• CLN6 Disease
• CLN7 Disease
• CLN8 Disease
• CLN10 Disease
• CLN11 Disease
• CLN12 Disease
• CLN13 Disease
• CLN14 Disease

Interventions

Type	Name	Description
OTHER	Natural History	Natural History and Clinical Follow Up.

Timeline

• Start date: 2020-04-08
• Primary completion: 2050-04-08
• Completion: 2050-04-08
• First posted: 2020-11-03
• Last updated: 2021-10-29

Locations

1 site across 1 country: Germany