Designing comparative effectiveness research for rare diseases is challenging. For any rare disease, sample size is small, natural history is not well defined, and treatment approaches are often empirical. However, many patients with rare diseases share common challenges, offering the opportunity to develop cross-cutting research with impact throughout the rare disease community. One such common challenge is the high rate of mental health disorders experienced by rare disease patients; the incidence of mental health disorders is significantly higher in individuals with rare diseases, compared to the general public.
Proposed Solution: The Rare Disease and Research Engagement (RaRE) project will develop a Rare Disease Partnership Model and stakeholder-informed patient-centered outcomes research (PCOR) priorities at the intersection of rare disease and mental health.
- Build national network of diverse rare disease stakeholders interested in PCOR for rare diseases
- Develop a comprehensive engagement model and governance structure to enhance collaborations among disparate rare disease communities for PCOR partnership
- Identify cross-cutting patient-centered outcomes and research questions amenable to pragmatic CER studies
- Develop a roadmap to implement and sustain robust stakeholder engagement in cross-cutting rare disease PCOR
- Adopt governance document
- Conduct literature review/environmental scan
- Develop stakeholder engagement plan
- Host community convening
- Identify patient-centered outcomes and quality-of-life measures at intersection of rare disease and mental health
- Prioritize research questions for rare disease/mental health
- Adopt dissemination strategy
- Develop roadmap for sustaining meaningful engagement of diverse groups of stakeholders
Outcomes and Outputs:
Short-term: Establish opportunities for multi-stakeholder partnerships to support rare disease PCOR.
Medium-term: Generate a Rare Disease Partnership Model and stakeholder-informed rare-disease PCOR priorities.
Long-term: Researchers will implement cross-cutting rare disease PCOR with potential for broader generalizability and uptake.
- PCORI’s rare disease funding portfolio will be expanded.
- PCORI-funded cross-cutting PCOR in rare diseases will generate evidence to inform decision making for patients living with these conditions.
- Patients living with rare disease will experience better health outcomes and quality of life.
Patient and Stakeholder Engagement Plan: The plan will focus on three issues: how to ensure meaningful engagement of people on the project team; outline strategies for recruiting a diverse group of people who represent various stakeholder groups to attend the community convening; how to sustain a robust national group of stakeholders across rare disease communities for future work (Rare Disease Partnership Model). The stakeholder engagement plan will be written with input from the project team and will include: goals for engagement, partner roles, engagement structure, recruitment strategy, stakeholder orientation and preparation, and retention of stakeholders. This plan will be reviewed and adapted, as necessary, by the project team.
Collaborators: PCORI Ambassadors, members of the PCORI Rare Disease Advisory Panel, patients, caregivers and family members, providers, representatives of patient and disease-specific organizations, payers, and researchers.