Project update: “Defining and prioritizing research questions and outcome measures in ASXL-related disorders”
Meeting summary report
The ARRE Foundation is making significant progress on our PCORI-funded project to develop and prioritize research questions shaped by the voices of families living with ASXL-related disorders. During the 2024 ASXL Family Conference, ASXL families participated in focus groups that provided rich insights into key areas of concern, including neurodevelopment (cognition and communication), gastrointestinal issues, and behavioral challenges.
The project leadership team, which includes six parent caregivers, is now developing a list of research questions based on insights from the focus groups. In January, we’ll invite the ASXL community to participate in an online survey to prioritize these questions. Findings from this project will be an invaluable resource to guiding funding for future research studies and informing what outcomes are most important to families to measure in future clinical trials.
For additional details, read the full project report update (PDF). This project is funded by a Eugene Washington PCORI Engagement Stakeholder Convening Award.
