Clinical and Neuropsychological Investigations in Batten Disease
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|ClinicalTrials.gov Identifier: NCT01873924|
Recruitment Status : Recruiting
First Posted : June 10, 2013
Last Update Posted : December 4, 2018
|Condition or disease|
|Neuronal Ceroid Lipofuscinosis|
Batten Disease is an inherited disorder that causes progressive cognitive and behavioral decline in children. There have been no systematic clinical studies of Batten Disease using standardized rating instruments with known inter-rater reliability and validity.
The Batten Study Group developed the Unified Batten Disease Rating Scale (UBDRS), a clinical rating instrument used to assess the motor, behavioral, and functional capabilities of individuals with Batten disease. Using the UBDRS, study investigators will evaluate participants approximately every year to track disease progression. The UBDRS is the primary natural history tool, but the study also includes neuropsychological assessment, adaptive function, quality of life measures, and other measures to assess the impact of Batten Disease. Participants will be examined at the University of Rochester Batten Center, Batten Disease Support and Research Association annual meeting, or remotely via televideo. Information related to racial and ethnic background, medical history, symptoms, medications, and diagnostic testing will be collected.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||500 participants|
|Target Follow-Up Duration:||10 Years|
|Official Title:||Clinical and Neuropsychological Investigations in Batten Disease|
|Study Start Date :||August 2004|
|Estimated Primary Completion Date :||July 2025|
|Estimated Study Completion Date :||July 2025|
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)
- Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease. [ Time Frame: Annual Assessments for up to 20 years ]A quantitative measure of natural history
- Cognitive and neurobehavioral functioning of individuals with Batten disease [ Time Frame: Annual Assessments for up to 10 years ]A standardized battery of neuropsychological tests and neurobehavioral assessments will be used to measure cognitive skills (e.g., verbal reasoning, attention, memory, language), mood, behavior, adaptive function, and quality of life.
- Quantitative assessment of vision and retinal thickness [ Time Frame: Annual Assessments for up to 20 years ]Vision and retinal thickness assessments include visual acuity, visual fields, fundus photography to document anatomic extent of disease, fundus autofluorescence to measure lipofuscin accumulation, and optical coherence tomography (OCT) to provide detailed images of retinal structure, measure retinal layers, and measure central macular thickness.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01873924
|Contact: Amy Vierhile, RN PNP||(585)email@example.com|
|United States, New York|
|University of Rochester||Recruiting|
|Rochester, New York, United States, 14642|
|Contact: Amy Vierhile, RN PNP 585-275-4762 firstname.lastname@example.org|
|Principal Investigator:||Jonathan W Mink, MD PhD||University of Rochester|