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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 : February 5, 2019
Sponsor:
Information provided by (Responsible Party):
Jonathan Mink, University of Rochester

Tracking Information
First Submitted Date May 17, 2013
First Posted Date June 10, 2013
Last Update Posted Date February 5, 2019
Study Start Date August 2004
Estimated Primary Completion Date July 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: November 30, 2018)
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
Original Primary Outcome Measures
 (submitted: June 5, 2013)
  • Refinement and validation of the UBDRS [ Time Frame: 10 years ]
  • The natural history of Batten Disease [ Time Frame: 10 years ]
    The motor, behavioral, and functional capability of individuals with Batten Disease is assessed over time using the UBDRS.
Change History Complete list of historical versions of study NCT01873924 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: November 30, 2018)
  • 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.
  • 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.
Original Secondary Outcome Measures
 (submitted: June 5, 2013)
  • The cognitive and behavioral functioning of individuals with Batten disease. [ Time Frame: 10 years ]
    A standardized neuropsychological test and a standardized behavioral rating scale may be used to measure cognitive and behavioral functioning.
  • The biochemistry of blood serum and buccal epithelial cells [ Time Frame: 10 years ]
    A factor that may contribute to the progression of Batten disease is studied by analyzing the biochemistry of blood serum and buccal epithelial cells, particularly with regard to antibodies, amino acids and enzyme activities in individuals with Batten disease and their parents. Results are compared with those of non-Batten affected children aged 5-18.
  • The mutations that cause the disease in each Batten-affected subject (genotype) [ Time Frame: 10 years ]
    By confirming the genotype, we confirm the diagnosis and establish genotype phenotype correlations.
  • Cell lines [ Time Frame: 10 years ]
    Cell lines will be established from banked samples of subjects who have consented to allowing their samples to be retained for future research purposes.
  • Parent reported activity level and physical capability of female individuals with Batten Disease [ Time Frame: 10 years ]
    We analyze whether parental bias with regard to engendering activity level and physical capability results in the more rapid loss of JNCL (Juvenile Neuronal Ceroid Lipofuscinosis) females' physical independence and ability to complete activities of daily living without aid.
  • Estrogen [ Time Frame: 10 years ]
    We are investigating whether or not increased estrogen levels contribute to the faster progression of disease in females with JNCL.
  • Movement disorders [ Time Frame: 10 years ]
    We are gathering data on the most common movement disorders associated with Batten Disease.
  • Parent beliefs about end of life decisions, procedures, and surgeries for their affected children with Batten Disease [ Time Frame: 10 years ]
    We are distributing a questionnaire to parents regarding the questions noted above.
  • Parental thoughts and decisions about the placement of pacemakers in children with JNCL [ Time Frame: 10 years ]
    We are distributing questionnaires that ask questions about parents' thoughts about placement of pacemakers.
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical and Neuropsychological Investigations in Batten Disease
Official Title Clinical and Neuropsychological Investigations in Batten Disease
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.
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]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Retention:   Samples With DNA
Description:
whole blood, buccal epithelial cells
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.
Condition
  • Neuronal Ceroid Lipofuscinosis
  • Neuronal Ceroid Lipofuscinosis CLN1
  • Neuronal Ceroid Lipofuscinosis CLN2
  • Neuronal Ceroid Lipofuscinosis CLN3
  • Neuronal Ceroid Lipofuscinosis CLN5
  • Neuronal Ceroid Lipofuscinosis CLN6
  • Neuronal Ceroid Lipofuscinosis CLN7
  • Neuronal Ceroid Lipofuscinosis CLN8
  • Neuronal Ceroid Lipofuscinosis CLN10
  • Batten Disease
Intervention Not Provided
Study Groups/Cohorts Batten disease
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: November 30, 2018)
500
Original Estimated Enrollment
 (submitted: June 5, 2013)
400
Estimated Study Completion Date July 2025
Estimated Primary Completion Date July 2025   (Final data collection date for primary outcome measure)
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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Amy Vierhile, RN PNP (585)275-4762 amy_vierhile@urmc.rochester.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01873924
Other Study ID Numbers Batten Study
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Jonathan Mink, University of Rochester
Study Sponsor University of Rochester
Collaborators Not Provided
Investigators
Principal Investigator: Jonathan W Mink, MD PhD University of Rochester
PRS Account University of Rochester
Verification Date February 2019