Setting a Research Agenda for Vascular Ehlers-Danlos Syndrome Using a Patient and Stakeholder Engagement Model

Liz Sage 1, Melissa L Russo 2, Peter H Byers 3, John Demasi 4, Shaine A Morris 5, Lauren N Puryear 3, Daphne S Fulton 6, Sherene Shalhub 7, Vascular Ehlers-Danlos Syndrome Research Collaborative

Affiliations

PMID: 32115322
DOI: 10.1016/j.jvs.2019.12.043

Abstract

Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement.

Methods: The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researcher partnership. Between October 1, 2017, and September 30, 2018, the Collaborative used the Patient-Centered Outcomes Research Institute Engagement Rubric to conduct stakeholder engagement to develop a patient-centered research agenda. A modified Delphi technique was used to develop and to refine research topics and questions, gathering input from all stakeholders during three rounds of feedback.

Results: Four topic areas were deemed important: mental health and quality of life issues, creating a care team, a holistic approach to vEDS management (medical and surgical), and pregnancy management. An online survey to rank a list of 12 research questions in these topic areas in order of importance was disseminated. The questions were ranked in order of importance through an online survey (N = 197 responses). The survey showed a high degree of alignment in the top priorities among stakeholders. There was a high degree of interest in pragmatic clinical trials evaluating medical management options and health-related quality of life outcomes.

Conclusions: The vEDS Research Collaborative has built a sustainable, coalition model of patient and stakeholder engagement, supported by the vEDS community, to identify a patient-centered, prioritized list of research questions. In articulating a shared vision for the future of vEDS research, the Collaborative has laid the groundwork for developing research protocols aligned with the highest priority questions for the individuals affected by this serious condition that can be translated into future clinical trials.

Keywords: COL3A1 mutations; Patient and stakeholder engagement; Rare disease research; Research prioritization; Vascular Ehlers-Danlos syndrome.