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UR Medicine


Outcome Measures and Infrastructure for Phase III Studies in Batten Disease (JNCL) Conference

Outcomes meeting

Attendees of the 2013 Outcome Measures and Infrastructure for Phase III Studies in Batten Disease (JNCL) Conference.

On December 6th-7th, 2013, the University of Rochester Medical Center (URMC; Rochester, NY USA) Batten Center and UR Batten Study Group hosted a conference to focus on clinical research issues in Juvenile Batten Disease. Juvenile Neuronal Ceroid Lipofuscinosis (JNCL; Juvenile Batten Disease) is a rare, fatal, inherited childhood-onset neurodegenerative disease, with no established treatments yet that can slow, stop, or reverse disease course. The conference was made possible by a grant from the National Institutes of Health and by support from the University of Rochester Child Neurology Research Fund.

The two-day meeting, titled, “Outcome Measures and Infrastructure for Phase III Studies in Batten Disease (JNCL), included 30 JNCL clinician-scientist experts from the U.S. and Europe, their trainees, parents of JNCL-affected children, and representatives from Batten disease advocacy groups, the National Institutes of Health, and experts from the fields of rare disease research, experimental therapeutics, and biostatistics.

As with all rare diseases, the ‘road map’ to move JNCL research from the lab to patients is challenging. All current clinical research in JNCL is in the “Phase II” stage. At this stage of research, the focus is on whether potential treatments are safe and well-tolerated. The conference participants convened to discuss challenges and opportunities for the next stage of research - Phase III clinical trials. Phase III trials focus on clinical efficacy, or in other words, testing whether experimental treatments are effective at treating disease. Although there are no treatments yet identified for Phase III research, there are many issues to address in preparation for future trials, including, but not limited to:

  • How to reach out to and enroll patients, since the population is so small and spread across the world
  • Setting standards for measuring whether a potential new treatment is effective
  • Identifying potential targets of treatment (e.g., specific symptoms of the disease; disease progression)
  • Identifying and expanding infrastructure (such as patient registries)
  • Building/strengthening collaborations among international research sites
  • Identifying potential funding opportunities

The conference hosts at URMC will be preparing meeting proceedings to be published in a peer-reviewed scientific journal. When published, details will be made available here. This website also contains summary materials from the meeting, and we hope it will also eventually serve as online forum for ongoing discussion, to continue the work that was initiated at the conference.

Support for this conference was provided by:

The National Institutes of Health – National Institute of Neurological Diseases and Stroke (NIH/NINDS): 1R13 NS078981, Outcomes and Infrastructure for Phase III Clinical Trials in JNCL - Batten Disease

The University of Rochester Child Neurology Research Fund