Actively Recruiting
Clinical and Neuropsychological Investigations in Batten Disease
Led by University of Rochester · Updated on 2025-09-12
500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the natural history of Batten disease, also known as Neuronal Ceroid Lipofuscinosis, a genetic disorder that causes progressive cognitive and behavioral decline in children and adults. The study aims to gather detailed information about the motor, behavioral, and functional abilities of people with Batten disease and to improve the Unified Batten Disease Rating Scale (UBDRS), a clinical tool designed to measure disease severity and progression. Participants with any form of Batten disease will be assessed using the UBDRS approximately once a year for up to 20 years. The study involves clinical and neuropsychological evaluations, including cognitive and behavioral assessments, adaptive function, quality of life measures, and vision tests. Assessments may take place at the University of Rochester Batten Center, annual meetings of the Batten Disease Support and Research Association, or remotely through televideo. During their involvement, participants will provide medical history, symptom details, medication use, and diagnostic test information. Researchers will monitor changes in physical health, seizures, behavior, and function annually using the UBDRS, along with cognitive and vision-related measures. The study may last up to 20 years, with some assessments continuing for up to 10 years, and aims to better understand disease progression and its impact on daily life.
CONDITIONS
Brief Title
Clinical and Neuropsychological Investigations in Batten Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Child or adult with any form of Batten disease
- Parent or legal guardian of a child or adult with any form of Batten disease
You will not qualify if you...
- Parent or guardian unable or unwilling to provide permission for the affected individual
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 20 years
Participants undergo annual assessments to track disease progression and assess cognitive, behavioral, and functional changes related to Batten Disease.
Approximately 1 visit per year (in-person or remote)
Trial Site Locations
Total: 1 location
1
University of Rochester
Rochester, New York, United States, 14642
Actively Recruiting
Research Team
A
Amy Vierhile, RN PNP
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here