Clinical and Neuropsychological Investigations in Batten Disease

University of Rochester

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT01873924

Batten Study

Details and patient eligibility

About

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.

Full 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.

Enrollment: 500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

500 participants in 1 patient group

Batten disease

Description:

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