Meeting Overview

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 main objective of the “JNCL Outcomes Meeting” was to bring together clinical research experts in JNCL and rare diseases to focus, for the first time, on establishing common ground for outcomes and infrastructure in support of Phase III Clinical Trials. The two day meeting, hosted by the University of Rochester Batten Study Group (Rochester, NY USA), included 30 participants, bringing expertise from JNCL research directly, clinical research in rare diseases, and parents and parent advocacy groups.

The conference had three specific aims:

• Specific Aim 1: To identify potential clinical trial endpoints for Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, CLN3 disease, Batten Disease)
• Specific Aim 2: To advance the infrastructure for collaboration and growth among the various NCL patient registries, and further develop patient registries as tools for clinical trial development
• Specific Aim 3: To enable junior investigators in JNCL to learn about and participate in the clinical research development process

The first day of the meeting consisted of formal paper presentations to address key topics relevant to clinical trials in JNCL: development and validation of clinical trial endpoints, biostatistical methods, adaptive designs, and experimental therapeutics in rare disease research, and rare disease registries. The formal session also included talks by two parents of children affected by juvenile Batten Disease, offering important perspectives on the theme of “What matters to families” in clinical research. Four clinician-scientists in training also attended the meeting. Each trainee fully participated in all meeting activities and presented their own research at a poster session.

These talks set the stage for the activities of the second meeting day, which consisted of four intensive, working group sessions. These highly interactive working group sessions were devoted to: proposing and discussing possible clinical trial endpoints and endpoint validation, and expanding content and utilization of NCL patient registries to inform clinical trial endpoint work.

The full meeting schedule, including the list of all speakers and the titles of their formal presentations, is provided here. The slide sets for some of these presentations are available as well. We gratefully acknowledge and thank each of our speakers.

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