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Clinical and Neuropsychological Investigations in Batten Disease

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ClinicalTrials.gov Identifier: NCT01873924
Recruitment Status : Recruiting
First Posted : June 10, 2013
Last Update Posted : December 4, 2018
Sponsor:
Information provided by (Responsible Party):
Jonathan Mink, University of Rochester

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.

Condition or disease
Neuronal Ceroid Lipofuscinosis

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.


Study Type : Observational [Patient Registry]
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Clinical and Neuropsychological Investigations in Batten Disease
Study Start Date : August 2004
Estimated Primary Completion Date : July 2025
Estimated Study Completion Date : July 2025


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



Primary Outcome Measures :
  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 Outcome Measures :
  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.


Biospecimen Retention:   Samples With DNA
whole blood, buccal epithelial cells


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals diagnosed with any form of Batten disease and their parents/legal guardians are eligible to take part in this study.
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


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01873924


Contacts
Contact: Amy Vierhile, RN PNP (585)275-4762 amy_vierhile@urmc.rochester.edu

Locations
United States, New York
University of Rochester Recruiting
Rochester, New York, United States, 14642
Contact: Amy Vierhile, RN PNP    585-275-4762    amy_vierhile@urmc.rochester.edu   
Sponsors and Collaborators
University of Rochester
Investigators
Principal Investigator: Jonathan W Mink, MD PhD University of Rochester

Responsible Party: Jonathan Mink, Principal Investigator, University of Rochester
ClinicalTrials.gov Identifier: NCT01873924     History of Changes
Other Study ID Numbers: Batten Study
First Posted: June 10, 2013    Key Record Dates
Last Update Posted: December 4, 2018
Last Verified: November 2018

Keywords provided by Jonathan Mink, University of Rochester:
Batten disease
NCL
Neuronal Ceroid Lipofuscinosis

Additional relevant MeSH terms:
Neuronal Ceroid-Lipofuscinoses
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Lipidoses
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lipid Metabolism Disorders
Metabolic Diseases