Clinical and Neuropsychological Investigations in Batten Disease
Neuronal Ceroid Lipofuscinosis
|Study Type:||Observational [Patient Registry]|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration:||10 Years|
|Official Title:||Clinical and Neuropsychological Investigations in Batten Disease|
- 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.
- 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.
Biospecimen Retention: Samples With DNA
|Study Start Date:||August 2004|
|Estimated Study Completion Date:||July 2020|
|Estimated Primary Completion Date:||July 2020 (Final data collection date for primary outcome measure)|
Individuals with any form of Batten disease (Neuronal Ceroid Lipofuscinosis)
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01873924
|Contact: Amy Vierhile, RN PNP||(585)firstname.lastname@example.org|
|United States, New York|
|University of Rochester||Recruiting|
|Rochester, New York, United States, 14642|
|Contact: Amy Vierhile, RN PNP 585-275-4762 email@example.com|
|Principal Investigator:||Jonathan W Mink, MD PhD||University of Rochester|