What was your consortium's most significant achievement from the past year?
Erika Augustine, MD, MS, Principal Investigator, BDCRC: This year, the BDCRC formally established its operating infrastructure, bringing together investigators, research coordinators, caregivers and advocacy partners, and centralized data management and coordination support, focused on the goal of advancing clinical research in Batten disease. Initial organizational efforts centered on a collaborative process to finalize research protocols and supporting materials, reflective of the stakeholder research priorities established during the initial formation of the BDCRC, and regular communication with the Batten disease community. Monthly meetings were a key forum for this collaborative work, and served as the setting for BDCRC Learning Labs, our educational series featuring 15-minute presentations from subject matter experts on topics relevant to the consortium. The year culminated in a two-hour BDCRC symposium for families and the Batten disease community at the annual Batten Disease Support, Research, and Advocacy (BDSRA) Foundation family conference.
What did this achievement accomplish?
Dr. Augustine: By centering stakeholder collaboration, we developed a robust and patient-centered research protocol and materials for IRB submission and review. The BDCRC infrastructure and processes established in year one will support the success of our future research and are critical to ongoing productive collaboration. Learning Labs, shared publicly through the RDCRN's YouTube channel, served as training tools and as a means to share expertise and information beyond the consortium. Presentations featured instrument developers explaining the tools to be used in our research studies, single IRB experts providing guidance on the submission process, and Child Life Specialists sharing best practices for respectful engagement with the Batten disease community. Finally, by introducing the BDCRC and its research directly to families, we continued critical conversations about research in Batten disease and set the stage for launch of one of the most comprehensive studies of Batten disease to date.
How will this impact the rare disease community?
Dr. Augustine: The BDCRC, through its newsletters, symposia, Learning Labs, and other communications, ensured not only strong within-network operations, but also strong communication with the rare disease community. The creation of accessible materials means that families have access to the science behind the study measures, the steps researchers need to take before a study begins, and resources and support systems that may be available when participating in research. Making this information accessible promotes transparency, supports informed participation, and helps strengthen partnerships between the BDCRC and families impacted by rare disease.
How will this advance the goals of your consortium and/or the RDCRN at large?
Dr. Augustine: The Learning Labs served as a platform for engagement and served as an effective training tool for our network. The growing library of recorded presentations will serve as an onboarding resource for new team members, reducing administrative burden and helping ensure that study teams across sites are equipped with the knowledge they need to conduct research consistently and effectively. Overall, in year one, the BDCRC established the foundational infrastructure and resources needed to move forward in our aim of carrying out high-quality research that advances our understanding of Batten disease and generates novel tools for efficient and impactful clinical trials.