Background: as patient partners, we were co-investigators on a study to develop core outcome sets (COS) for two rare paediatric diseases, phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This is the first COS for studies evaluating care for these conditions.
Objectives: a key purpose of this study was to include the patient perspective so that future PKU/MCADD research is geared towards outcomes that are meaningful to patients and families.
Study design: this study involved an evidence review, a Delphi consensus survey to ascertain the views of patients/families, healthcare providers, and policy decision makers, and a multi-stakeholder consensus workshop. We led the patient engagement activities, contributing expertise to identify challenges to incorporating patient perspectives and designing strategies that address those challenges.
Challenges: key challenges to patient engagement in COS development include appropriate training in the process, maintaining motivation to engage in research, which can be far removed from the patient's and family’s immediate concerns, ensuring that Delphi surveys are in lay language, and the difficulty in bringing together multiple stakeholders for a consensus meeting especially in a rare disease community.
Our patient engagement strategy: we assembled a seven-member Family Advisory Forum (FAF), who received in-person training and regular ongoing communication. FAF members reviewed recruitment materials explaining COS development, Delphi survey materials, and the definitions of the outcomes in the Delphi survey to ensure that they were relatable and understandable to the target audience. Engagement with patient/family partners and advisors led to meaningful changes in the study, including the clarification of survey materials and the simplification of the presentation of initial Delphi findings. We gave careful consideration to preparing patient partners and FAF members for the consensus workshop by providing materials ahead of time, conducting an in-person pre-meeting, and using a process to ensure they could participate meaningfully. Because most patients and family advisors had never participated in this type of meeting, where patients and health care professionals engage in a dialogue to reach agreement, it was particularly important to clearly establish roles and discuss expectations for all stakeholders. Patients and families accounted for over 30% of the workshop attendees. In a post-workshop evaluation, patients and families indicated that they were able to express their views freely and that their input was considered.
Conclusion: a tailored approach to patient engagement that is guided by patient partners has been feasible and valuable, and acknowledges that patients/caregivers can meaningfully participate in COS development. This study design can be reproduced to develop COS for other rare diseases, allowing the patient perspective to influence the direction of future research.