Batten Researchers Convene to Determine Future of Clinical Research

With incredibly rare diseases, the road map for moving research from the lab to patients often isn’t clear. Such is the case with Juvenile Batten Disease, a rare neurodegenerative syndrome that erupts with little warning. It first steals sight sometime between 5 and 8 years of age, then cripples cognitive and motor capacities, and it is, ultimately, terminal in the late teens or 20s. Only 1-2 in every 100,000 children are born with the genetic disease, making research into treatments difficult because of how small and spread out the population is.

Tomorrow and Saturday (Dec. 6 and 7), 28 researchers, parents, and representatives of advocacy groups from across the United States and Europe convene at the University of Rochester Medical Center to plan for how a Phase III clinical trial might work, should a potential treatment emerge from current or future research.

“We need to determine how to reach out to and enroll patients, since the population is so small and spread across the world,” said Heather Adams, Ph.D., Assistant Professor of Pediatrics and Neurology and the conference organizer. “And we need to set the standards for measuring whether a treatment is effective.”

The conference attendees will also assess what registries exist that contain information about patients with Juvenile Batten Disease and how information might be applied to help make a Phase III trial possible. In addition, a handful of trainees will attend the conference, encouraging young investigators to pursue research on Batten Disease with the aim of ensuring that research continues into the next generation.

Rochester is the natural choice for a gathering of Batten researchers. URMC clinicians and researchers developed the Batten Disease rating scale that allows clinicians to identify the trajectory of the disease in individual patients, basically defining the course of the disease. In 2011, URMC launched the first controlled clinical trial for Juvenile Batten Disease, which is a Phase II safety trial, and it is one of only five Batten Disease Centers of Excellence in the U.S. awarded by the Batten Disease Support and Research Association.

The conference, made possible by a small grant from the National Institutes of Health, will make possible a quicker transition from a Phase II trial to a Phase III trial.

“The goal is that when a likely Phase III candidate comes along, the field will be ready,” Adams said. “But our ultimate goal is to offer treatments that lead to clinically meaningful improvements in the lifespan and more importantly, the quality of life, of children affected by Juvenile Batten Disease, and their families.”