This R13 application requests partial support for a meeting, "Outcome Measures and Infrastructure for Phase III studies in Batten Disease (JNCL)". The meeting will be held September 22-24, 2012 at the Hyatt Regency in Atlanta, Georgia. JNCL is a rare, fatal, inherited, childhood-onset neurodegenerative disease. The main objective of the meeting is to bring together clinical research experts in JNCL to focus, for the first time, on establishing common ground for outcomes and infrastructure in support of Phase III Clinical Trials. To this end, we propose three specific aims: 1) To identify potential clinicaltrial endpoints for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3 disease, Batten Disease);2) advance the infrastructure for an International Patient Registry for JNCL and other NCL diseases, and 3) provide opportunities for junior investigators pursuing research in JNCL to learn about and participate in the clinical-research development-process. This 3-day meeting will have 45-50 participants, including JNCL experts from the United States and Europe. The program will include paper presentation and workshop sessions. Paper sessions will present clinical research advances in JNCL, address experimental therapeutics in rare-disease research (novel statistical approaches, research methods/design, clinical trial endpoints), and updates on the International NCL Patient Registry. Workshops will be devoted to proposing and discussing possible clinical trial endpoints, developing a strategic plan for validation of endpoints, and for expanding content and utilization of the International NCL Registry to inform clinical trial endpoint work. In paper sessions, we will extend every opportunity for the participation of junior investigators, including postgraduate students and postdoctoral fellows with interest in clinical research in the NCLs, and for participation of women and minorities. At both paper and workshop sessions, representatives of JNCL parent-advocacy groups will contribute to the discussion of clinically meaningful outcomes. The significance of this proposal is that it will be the first ever meeting devoted to discussion of relevant and important clinical endpoints for Phase III Research in JNCL. The major outcomes of this meeting will be 1) A set of potential clinical endpoints in JNCL and a plan for their development and validation for future Phase III studies;2) a plan for expansion of the International NCL Patient Registry incorporating clinical trial endpoint work. These outcomes will be summarized in manuscript form and will serve as a guide for future work in clinical-trial-endpoint development in JNCL. The health relatedness of this proposal is its potential to accelerate clinical experimental therapeutics in JNCL. Our ultimate goal is to offer treatments that lead to clinically meaningful improvements in the lifespa and more importantly, the quality of life, of children affected by JNCL.
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL;CLN3 Disease) is a rare, inherited, neurodegenerative disease of childhood onset that causes vision loss, seizures, mental and motor decline, and premature death. There are no established treatments that can slow, stop, or reverse disease progression, but there are emerging clinical studies, including the recent initiation of a randomized clinical trial in JNCL, a Phase II safety tolerability study of mycophenolate mofetil in JNCL, by the University of Rochester Batten Center (URBC). Supportive infrastructure to facilitate international collaboration on JNCL and other NCL diseases is also being developed in Europe, via the International NCL Patient Registry (Angela Schulz and colleagues;Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany). The proposed conference will establish a road map for developing meaningful clinical trial outcome measures and examining the infrastructure for future Phase III studies in Juvenile Neuronal Ceroid Lipofuscinosis.