Ignite Creation Date:
2024-05-06 @ 3:23 PM
Last Modification Date:
2024-10-26 @ 1:48 PM
Study NCT ID:
NCT04613089
Status:
RECRUITING
Last Update Posted:
2021-10-29
First Post:
2020-09-10
Brief Title:
Natural History and Longitudinal Clinical Assessments in NCL Batten Disease the International DEM-CHILD Database
Sponsor:
Universitätsklinikum Hamburg-Eppendorf
Organization:
Universitätsklinikum Hamburg-Eppendorf
Study Overview
Official Title:
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
Status Verified Date:
2021-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None