To describe key findings from the Global Moyamoya Patient Registry (GMPR) to date; and to use the GMPR as a model for patient co-created research to advance rare disease longterm outcomes research. 

Nearly 1 in 10 Americans live with a rare disease (RD). RDs represent a wide range of serious disorders which disproportionately affect the nervous system. One such disease is moyamoya disease. Like many other RDs, there is a dearth of longterm outcomes data on moyamoya. This has called for a need for novel approaches to recruit and retain patients for patient registries. In response to this need, the MoyaMoya Foundation, a non-profit organization committed to patients with moyamoya and facilitating research, established the Global Moyamoya Patient Registry (GMPR). The GMPR has drawn interest from academic neurologists and fostered collaboration between clinical experts and community advocates. Patient engagement and co-creation can improve research about RDs which required creative solutions to increase enrollment and retention into patient registries.

This work employed repeated cross-sectional design to collect key information about moyamoya patients over time through surveys co-created by Moyamoya Foundation representatives experienced in patient advocacy and clinical research. Further, we are currently soliciting feedback from various stakeholders (e.g., patients, moyamoya clinicians, Moyamoya Foundation community members) via survey about the co-creation model for RD registries. We will use this feedback to identify the ways in which this model optimizes longterm outcomes data for moyamoya which we believe can be replicated for other RDs.

This work is ongoing. The results will include findings from the GMPR (e.g., demographic overview, clinical characteristics, identified trends) and conclusions regarding the application of patient co-creation model for RD research.

RDs like moyamoya require research attention. Co-creation of registries like the GMPR present a novel way conduct RD research and improve the availability of longterm outcomes data.