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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Batten disease | Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis) |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Cognitive and neurobehavioral functioning of individuals with Batten disease | 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. | Annual Assessments for up to 10 years |
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Inclusion Criteria:
Exclusion Criteria:
- parent or guardian unable or unwilling to provide permission for the affected individual
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Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amy Vierhile, RN PNP | Contact | (585)275-4762 | amy_vierhile@urmc.rochester.edu |
| Name | Affiliation | Role |
|---|---|---|
| Jonathan W Mink, MD PhD | University of Rochester | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Rochester | Recruiting | Rochester | New York | 14642 | United States |
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whole blood, buccal epithelial cells
| Quantitative assessment of vision and retinal thickness | 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. | Annual Assessments for up to 20 years |
| ID | Term |
|---|---|
| D009472 | Neuronal Ceroid-Lipofuscinoses |
| ID | Term |
|---|---|
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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