Our current research focuses on the juvenile form of Batten disease (JNCL) due to mutations in the CLN3 gene. Our research falls into 4 basic categories:
- Natural History. The goal is to better understand how the disease progresses, how different symptoms interact to cause disability, and to identify potential mitigating factors. We have developed the Unified Batten Disease Rating Scale (UBDRS) to evaluate the severity and rate of change in the cardinal symptoms of JNCL. This tool allows us to study the clinical aspects of JNCL quantitatively and to measure the effects of future therapies on these symptoms.
- Neurobehavioral and Neurocognitive Features. The goal of this research is to define the specific behavioral and cognitive features of JNCL and to develop strategies to minimize the impact of these symptoms on the quality of life of children with JNCL.
- Determinants of JNCL severity. Our studies to date have demonstrated that some individuals with JNCL have a milder course and others have a more rapidly progressive course. This variability seems not to be determined simply by different specific mutations in the CLN3 gene. We are working to determine what factors do determine disease severity.
- Experimental Therapeutics. A major emphasis of our research is to design and carry out meaningful clinical trials of promising therapeutic agents in JNCL. We work closely with David Pearce, PhD and his laboratory on translational research in Batten disease. Results from his research on pre-clinical models of CLN3 disease have suggested promising agents for modifying the disease course in children with JNCL.
Our overarching goals are to provide better knowledge about the clinical manifestations of Batten disease, and to develop and test meaningful therapeutics for children with Batten disease.
Study Group Publication List
Adams HR. Beck CA. Levy E. Jordan R. Kwon JM. Marshall FJ. Vierhile A. Augustine EF. de Blieck EA. Pearce DA. Mink JW. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). Developmental Medicine & Child Neurology. 52(7):637-43, 2010 Jul.
Adams HR. Kwon J. Marshall FJ. de Blieck EA. Pearce DA. Mink JW. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. Journal of Child Neurology. 22(5):621-7, 2007 May.
Adams H. de Blieck EA. Mink JW. Marshall FJ. Kwon J. Dure L. Rothberg PG. Ramirez-Montealegre D. Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Developmental Medicine & Child Neurology. 48(4):259-64, 2006 Apr.
Kwon JM. Rothberg PG. Leman AR. Weimer JM. Mink JW. Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neuroscience Letters. 387(2):111-4, 2005 Oct 21
Marshall FJ. de Blieck EA. Mink JW. Dure L. Adams H. Messing S. Rothberg PG. Levy E. McDonough T. DeYoung J. Wang M. Ramirez-Montealegre D. Kwon JM. Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 65(2):275-9, 2005 Jul 26.
Batten Study Group
601 Elmwood Ave
Rochester, NY 14642
(directed to Amy Vierhile)