URMC Research Tool Unlocks Natural History of Batten Disease

Jul. 31, 2019
University of Rochester Batten Center

URMC Batten Study Group

Back row: Heather Adams, Sara Defendorf, Frederick Marshall, Alyssa Thatcher, and Paul Rothberg.

Front row: Lisa DeBlieck, Jonathan Mink, Amy Vierhile, and Erika Augustine.

An article appearing in Neurology Today, a publication of the American Academy of Neurology, describes how University of Rochester Medical Center (URMC) researchers have painstakingly compiled decades of patient data and developed a highly sensitive rating scale that has provided a detailed picture of Batten disease. This tool, which was developed 17 years ago, has set a standard for how to conduct natural history research in rare childhood neurodegenerative diseases.

A common challenge in the treatment and study of neurological disorders is that these diseases are often poorly understood. The complex manifestation of these conditions – in which the appearance, severity, and progression of symptoms can vary widely – combined with the difficulty in recruiting study participants with rare neurological disorders often conspire to hamper efforts to precisely define the disease. This is a major problem when it comes to clinical trials, where rigorously defined outcome measures are required to determine if an experimental treatment is effective.

CLN3 disease is such an example. The disorder is one of a family of conditions called neuronal ceroid lipofuscinoses (NCL), more commonly referred to as Batten disease, which are characterized by vision loss, movement disorders, seizures, and dementia. It is estimated 2 to 4 out of every 100,000 children in the U.S. have NCL. CLN3 disease, a juvenile onset form of NCL, is the most prevalent form of the disease.

Initiated in 2001 by URMC neurologists Frederick Marshall, M.D. and Jonathan Mink, M.D., the Unified Batten Disease Rating Scale (UBDRS) includes physical, seizure, behavioral, and vision assessments. Over time, the scale has been refined based on clinical observations. To date, University of Rochester Batten Disease researchers have used the UBDRS to perform almost 500 evaluations in more than 200 patients in the U.S. and around the world. 

The development of the UBDRS was followed by the creation of a registry of known cases and the formation of the University of Rochester Batten Center in 2005. The center is co-directed by Mink and Erika Augustine, M.D. and includes Heather Adams, Ph.D. and Amy Vierhile, D.N.P on the leadership team and has become a leading center internationally for clinical research on all forms of Batten disease. 

Read more about the development of the UBDRS in Neurology Today.