An observational study in Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1 and Neuronal Ceroid Lipofuscinosis CLN2, sponsored by University of Rochester. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-09-12.
Sponsored by University of Rochester · Observational
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.
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.
46 studies on the registry are indexed under Neuronal Ceroid-Lipofuscinoses; 12 are open to participants now.
This study's planned enrollment of 500 is above the median of 49 across 22 observational studies indexed under Neuronal Ceroid-Lipofuscinoses.
Browse Neuronal Ceroid-Lipofuscinoses studies →University of Rochester is the lead sponsor of 715 studies on the registry; 116 are open to participants now.
Of its 56 completed or terminated interventional studies of FDA-regulated products, 44 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
Exclusion Criteria:
- parent or guardian unable or unwilling to provide permission for the affected individual
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.
A quantitative measure of natural history
Time frame: Annual Assessments for up to 20 years
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.
Time frame: Annual Assessments for up to 10 years
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.
Time frame: Annual Assessments for up to 20 years
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