Alagille syndrome (ALGS) is a rare complex genetic disease with highly variable phenotypic expression. Patients and their caregivers have many questions about the disease that have not been studied or have a significant impact on quality of life and treatment options. Clinical and academic research addresses some questions, but input from patients is lacking. There is a critical need to bridge the scientific view of ALGS with the patient-centered perspective to prioritize patient-centered outcomes research (PCOR) and comparative clinical effectivness research (CER) in ALGS.
The proposed solution is a research roundtable, planned for June 21, 2019, at the Kingsgate Hotel and Conference Center at the University of Cincinnati, Ohio. This is the first event of its kind for the Alagille Syndrome Alliance (ALGSA), the community, and exploration of PCOR/CER in ALGS. It is strategically placed between a scientific meeting on June 20 and the 8th International Symposium on ALGS on June 21 to give it the best potential for success. A critical mass of individuals representing the broad spectrum of ALGS will be poised to participate and engagement of all stakeholders will bring PCOR/CER in ALGS front and center to indelibly influence the research agenda into the future.
The overarching goal of the research roundtable is to develop a roadmap for PCOR/CER in ALGS that informs future scientific inquiry and therapeutic discovery. Objectives are designed to engage all stakeholders to identify specific knowledge gaps and develop priorities for research and potential hypotheses for future studies. The research roundtable has enormous potential to highlight the challenges of living with ALGS, identify what research is important to patients and their caregivers, and open vast new avenues of inquiry about the disease.
Before, during, and after the research roundtable, a range of activities will engage a varied spectrum of the ALGS community. A survey about What Matters in ALGS Research, podcast on PCOR/CER, and Meet and Greet Reception will precede the event. The day will be filled with presentations and discussion among all stakeholders, and webcasting/livestreaming of the event. Work will continue afterward with a smaller working group, and a lay conference summary, final white paper, and video segments will be shared through the ALGSA website and social media channels.
PCORI principles are integrated into every aspect of the research roundtable to arm patients and their families to better engage in the research process, be valued contributors to the discussion, and use their new understanding to interact with researchers and advocate in the future. Open dialogue, collaborative problem solving, and robust exchange of information will bridge the gap between clinicians’ and investigators’ assumptions and the experience of patients and their caregivers, identifying patient-centered and patient-driven priorities for research grounded in the principles of PCOR/CER.
Collaborators in the research roundtable include, first and foremost, the international community of patients and their families challenged every day by ALGS. Other key collaborators include Cincinnati Children’s Hospital Medical Center; clinicians, industry representatives, basic researchers, academics, and other individuals participating as organizers, presenters, moderators, and panelists; and sponsors and funders who make it possible for the ALGSA to host this critical event for the ALGS community.