Clinical and Neuropsychological Investigations in Batten Disease

This study is currently recruiting participants.
Verified April 2014 by University of Rochester
Sponsor:
Collaborators:
Rare Diseases Clinical Research Network
Information provided by (Responsible Party):
Jonathan Mink, University of Rochester
ClinicalTrials.gov Identifier:
NCT01873924
First received: May 17, 2013
Last updated: April 9, 2014
Last verified: April 2014

May 17, 2013
April 9, 2014
August 2004
July 2015   (final data collection date for primary outcome measure)
  • Refinement and validation of the UBDRS [ Time Frame: 10 years ] [ Designated as safety issue: No ]
  • The natural history of Batten Disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    The motor, behavioral, and functional capability of individuals with Batten Disease is assessed over time using the UBDRS.
Same as current
Complete list of historical versions of study NCT01873924 on ClinicalTrials.gov Archive Site
  • The cognitive and behavioral functioning of individuals with Batten disease. [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    By confirming the genotype, we confirm the diagnosis and establish genotype phenotype correlations.
  • Cell lines [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    We are distributing questionnaires that ask questions about parents' thoughts about placement of pacemakers.
Same as current
Not Provided
Not Provided
 
Clinical and Neuropsychological Investigations in Batten Disease
Clinical and Neuropsychological Investigations in Batten Disease

This study aims to assess the natural history of Batten disease by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease (Neuronal Ceroid Lipofuscinosis). 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. The UBDRS will be refined and targeted as a clinical tool and research instrument. Using the UBDRS, study physicians may evaluate participants every year to track disease progression and to determine whether the UBDRS is sensitive to symptom changes. Participants will be examined at the University of Rochester Batten Center or at the Batten Disease Support and Research Association annual meeting, which is held every summer.

Study personnel may also conduct neuropsychological testing with participants who have Batten Disease in order to enhance our understanding of their cognitive functioning.

Participants with Batten Disease may also be asked to have an electrocardiogram (ECG) obtained. This will provide information about cardiac changes that might occur in children with Batten Disease.

Additionally, parents or legal guardians of participants with Batten disease may be asked to complete interviews and questionnaires involving the following topics:

  • racial and ethnic background, medical history, medications, and symptoms
  • family history, parent education, and the type of training the child received when his or her vision began to decline
  • previous testing that may have been done to confirm a Batten Disease diagnosis
  • child's mood and behavior (if child is 5 - 18 years old)
  • parental beliefs regarding the placement of pacemakers
  • beliefs regarding procedures and other surgeries for children with Batten disease
  • opinions regarding supportive care during the various stages of Batten disease

If genetic testing has not yet been done, blood or cheek cells may be collected to confirm a Batten Disease diagnosis. Blood and cheek samples from participants with Batten Disease and their parents may also be collected and used in an attempt to better understand the genetic changes that cause Batten Disease and influence its severity. Furthermore, female siblings may participate by providing a blood sample. These samples will be examined to see how the amount of estrogen in the blood of females with Batten Disease compares to the amount of estrogen in the blood of their sisters who do not have Batten Disease.

Participants will be added to a database of children with Batten Disease whose parents have consented to be contacted about possible participation in future studies. This registry serves as a vehicle for recruitment.

Observational [Patient Registry]
Observational Model: Cohort
Time Perspective: Prospective
10 Years
Retention:   Samples With DNA
Description:

whole blood, buccal epithelial cells

Non-Probability Sample

Individuals diagnosed with any form of Batten disease are eligible to take part in this study.

Neuronal Ceroid Lipofuscinosis
Not Provided
Batten disease
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
400
July 2015
July 2015   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • child or young adult with any form of Batten disease
  • parent or legal guardian of a child or young adult with any form of Batten disease
  • sister of a child or young adult with any form of Batten disease

Exclusion Criteria:

  • Neurologic disorder other than NCL (Neuronal Ceroid Lipofuscinosis)
  • Signs or symptoms indicating significant psychological or physical discomfort with the exam process in the opinion of the parent, legal guardian, or examiner
Both
1 Year to 40 Years
No
Contact: Amy Vierhile, RN PNP (585)275-4762 amy_vierhile@urmc.rochester.edu
United States
 
NCT01873924
Batten Study, U54NS065768
No
Jonathan Mink, University of Rochester
University of Rochester
  • Rare Diseases Clinical Research Network
  • National Center for Advancing Translational Science (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Principal Investigator: Jonathan W Mink, MD PhD University of Rochester
University of Rochester
April 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP