Clinical and Neuropsychological Investigations in Batten Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Neuronal Ceroid Lipofuscinosis, Neuronal Ceroid Lipofuscinosis CLN1, Neuronal Ceroid Lipofuscinosis CLN2, Neuronal Ceroid Lipofuscinosis CLN3. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
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.
Primary outcome measures
- 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]
Secondary outcome measures (2)
- Cognitive and neurobehavioral functioning of individuals with Batten disease [Time frame: Annual Assessments for up to 10 years]
- Quantitative assessment of vision and retinal thickness [Time frame: Annual Assessments for up to 20 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- University of Rochester — Rochester
Identifiers
NCT: NCT01873924 · Batten Study