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NCT01873924 Clinical Trial

Clinical and Neuropsychological Investigations in Batten Disease

Batten Disease Clinical Trial

Official title:
Clinical and Neuropsychological Investigations in Batten Disease

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT01873924
Other study ID # Batten Study
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date August 2004
Est. completion date July 2025

Study information
Verified date July 2023
Source University of Rochester
Contact Amy Vierhile, RN PNP
Phone (585)275-4762
Email amy_vierhile@urmc.rochester.edu
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.

Description:

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 500
Est. completion date July 2025
Est. primary completion date July 2025
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - child or adult with any form of Batten disease - parent or legal guardian of a child or adult with any form of Batten disease Exclusion Criteria: - parent or guardian unable or unwilling to provide permission for the affected individual

Study Design

Related Conditions & MeSH terms

Locations
Country Name City State
United States University of Rochester Rochester New York

Sponsors (1)
Lead Sponsor Collaborator
University of Rochester

Country where clinical trial is conducted

United States, 

Outcome
Type Measure Description Time frame Safety issue
Primary Unified Batten Disease Rating Scale (UBDRS), assessing the severity and change in physical, seizure, behavioral, and functional aspects of individuals with Batten Disease. A quantitative measure of natural history Annual Assessments for up to 20 years
Secondary Cognitive and neurobehavioral functioning of individuals with Batten disease 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. Annual Assessments for up to 10 years
Secondary Quantitative assessment of vision and retinal thickness 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. Annual Assessments for up to 20 years
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