Skip to main content
OpenTrials
Recruiting

NCT Number: NCT01873924

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Neuronal Ceroid Lipofuscinosis Batten Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurodegenerative Diseases Neuronal Ceroid Lipofuscinosis CLN1 Neuronal Ceroid Lipofuscinosis CLN10 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-Lipofuscinoses Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Rochester

Rochester, New York, 14642, United States

Location status: Recruiting

Location contact

Amy Vierhile, RN PNP

CONTACT

[email protected]

(585) 275-4762

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

    Time frame: Annual Assessments for up to 20 years

    A quantitative measure of natural history

Secondary outcomes

  1. Cognitive and neurobehavioral functioning of individuals with Batten disease

    Time frame: Annual Assessments for up to 10 years

    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.

  2. Quantitative assessment of vision and retinal thickness

    Time frame: Annual Assessments for up to 20 years

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Amy Vierhile, RN PNP

CONTACT

[email protected]

(585)275-4762

Sponsors and collaborators

Lead sponsor

University of Rochester

Other

Registry information

Important dates

Study start
2004
Primary completion
2035
Study completion
2035
First posted
Jun 10, 2013
Registry last updated
Sep 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.