Recruiting

Observational StudyClinical and Neuropsychological Investigations in Batten Disease

Sponsor:

University of Rochester

Code:

NCT01873924

Conditions

Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis CLN1

Neuronal Ceroid Lipofuscinosis CLN2

Neuronal Ceroid Lipofuscinosis CLN3

Neuronal Ceroid Lipofuscinosis CLN5

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT01873924

Start date

Aug, 2004

Status verified date

Sep, 2025

Completion date

Aug, 2035

Anticipated

Primary completion date

Aug, 2035

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Batten disease

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

Primary outcome measure

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 ]

Central Contacts and Locations

Central contacts

Amy Vierhile, RN PNP

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

Locations

University of Rochester

Recruiting

Rochester, New York, United States, 14642

Contacts

Amy Vierhile, RN PNP

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

More Information

Sponsor

University of Rochester

Last update posted

Sep 12, 2025

Last verified

Sep, 2025

Keywords

Batten disease
NCL
Neuronal Ceroid Lipofuscinosis

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Rochester on 2025-09-12.