Clinical and Neuropsychological Investigations in Batten Disease

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.

Study Overview

• Status: Recruiting
• Conditions: Batten Disease; Neuronal Ceroid Lipofuscinosis; Neuronal Ceroid Lipofuscinosis CLN6; Neuronal Ceroid Lipofuscinosis CLN3; Neuronal Ceroid Lipofuscinosis CLN5; Neuronal Ceroid Lipofuscinosis CLN1; Neuronal Ceroid Lipofuscinosis CLN2; Neuronal Ceroid Lipofuscinosis CLN7; Neuronal Ceroid Lipofuscinosis CLN8; Neuronal Ceroid Lipofuscinosis CLN10

Detailed 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.

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Amy Vierhile, RN PNP; Phone Number: (585)275-4762; Email: amy_vierhile@urmc.rochester.edu

Study Locations

• United States
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester
      • Contact: Amy Vierhile, RN PNP; Phone Number: (585) 275-4762; Email: amy_vierhile@urmc.rochester.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Batten disease; Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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

Collaborators and Investigators

• Sponsor: University of Rochester
• Investigators: Principal Investigator: Jonathan W Mink, MD PhD, University of Rochester

Study record dates

Study Major Dates

• Study Start: August 1, 2004
• Primary Completion (Estimated): August 1, 2035
• Study Completion (Estimated): August 1, 2035

Study Registration Dates

• First Submitted: May 17, 2013
• First Submitted That Met QC Criteria: June 5, 2013
• First Posted (Estimated): June 10, 2013

Study Record Updates

• Last Update Posted (Estimated): September 12, 2025
• Last Update Submitted That Met QC Criteria: September 5, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Batten disease; NCL; Neuronal Ceroid Lipofuscinosis
• Additional Relevant MeSH Terms: Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Lipid Metabolism Disorders; Lipid Metabolism, Inborn Errors; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Neuronal Ceroid-Lipofuscinoses
• Other Study ID Numbers: Batten Study

Drug and device information, study documents

• product manufactured in and exported from the U.S.: No