Batten Disease: Principal Project of UR IDDRC

Oct. 28, 2020

The principal project of the Intellectual and Developmental Disabilities Research Center (IDDRC) will focus on Batten disease, specifically CLN3 disease, also known as juvenile-onset Batten disease. Children with this rare genetic disorder start developing symptoms such as vision loss, impaired motor control, seizures, and dementia between 5-10 years of age. The University of Rochester Batten Center (URBC) is a recognized leader in research and treatment of this condition. With several potential gene therapies for Batten disease currently in advanced stages of development, URMC will focus on identifying biomarkers to evaluate the effectiveness of these experimental treatments.

“Even within individual families, we have learned that each diagnosed child may have a different disease experience in terms of the age of symptom onset, pattern of symptom progression, and the types of burdens experienced by them and their families,” said Heather Adams, Ph.D., associate professor in the departments of Neurology and Pediatrics and coinvestigator of the UR IDDRC Principal Project. “We cannot miss any opportunity to learn from affected individuals.”

Patients and families from across the U.S. come to URMC for care and Patterson family from northern Virgina, two of their four children – Gabriel, 16, and Nora, 12 – have Batten disease. From left: Bridget (mom), Gabriel, Maeve, Delaney, Nora, James (dad).to participate in research. While some visit labs in Rochester equipped to work with these patients and their families, in many instances a mobile URBC lab will travel to them. “Research is the main way that we feel like we contribute to the Batten community. We try to support research as much as we can. It is how we feel connected, doing what we can to help everyone’s effort,” said Bridget Patterson who lives in Virginia. Two of her four children, Nora and Gabriel, have Batten disease. “A disease like this really does affect the whole family. We have two other children that are not affected, but they feel the effects of the disease every day. I know that helping their lives be better too is one reason why we are involved in this research. If we can find a cure, a treatment, Nora and Gabriel would be the ones most dramatically impacted but it would help all of us.”

There are 11 other currently known childhood-onset forms of Batten disease, genetically distinct from one another, and all have significant impacts on neurodevelopment. URBC is designated a Center of Excellence by the Batten Disease Support and Research Association.

Originally published in NEUROSCIENCE Volume 7.