Clinical and Neuropsychological Investigations in Batten Disease

NCT01873924 | Recruiting

• 1 other identifier: Batten Study
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Neuronal Ceroid Lipofuscinosis; Neuronal Ceroid Lipofuscinosis CLN1; Neuronal Ceroid Lipofuscinosis CLN2; Neuronal Ceroid Lipofuscinosis CLN3; Neuronal Ceroid Lipofuscinosis CLN5; Neuronal Ceroid Lipofuscinosis CLN6; Neuronal Ceroid Lipofuscinosis CLN7; Neuronal Ceroid Lipofuscinosis CLN8; Neuronal Ceroid Lipofuscinosis CLN10; Batten Disease

Keywords

Batten disease; NCL; Neuronal Ceroid Lipofuscinosis

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Cognitive and neurobehavioral functioning of individuals with Batten disease

  Annual Assessments for up to 10 years

• Quantitative assessment of vision and retinal thickness

  Annual Assessments for up to 20 years

Study Arms (1)

Batten disease

Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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 may not qualify if:

• \- parent or guardian unable or unwilling to provide permission for the affected individual

Sponsors & Collaborators

• University of Rochester: lead

Study Sites (1)

University of Rochester

Rochester, New York, 14642, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, buccal epithelial cells

MeSH Terms

Conditions

Neuronal Ceroid-Lipofuscinoses

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jonathan W Mink, MD PhD

  University of Rochester

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Amy Vierhile, RN PNP

CONTACT

(585)275-4762; amy_vierhile@urmc.rochester.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: May 17, 2013
• First Posted: June 10, 2013
• Study Start: August 1, 2004
• Primary Completion (Estimated): August 1, 2035
• Study Completion (Estimated): August 1, 2035
• Last Updated: September 12, 2025

Record last verified: 2025-09

Locations

US (1)