Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children.

Core outcome sets (COS) are lists of consensus-determined outcomes to be measured and reported in all clinical research studies within a disease area. While including patients and families in COS development to improve their relevance and applicability to patient values is key, there is limited literature documenting practical barriers and facilitators to successful patient engagement in COS development. In this paper, as researchers and patient partners, we provide a resource for COS developers to meaningfully and effectively engage patients and families. To establish a consensus-based COS for children with two inherited metabolic diseases (medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria), we conducted an evidence review, Delphi survey, and workshop. Two adult patient partner co-investigators co-developed the study protocol, co-designed strategies to address challenges with incorporating patient perspectives, and led all patient engagement activities, including communication with a group of family advisors. Seven adult family advisors received training about COS development and subsequently contributed to Delphi survey development, outcome definitions, the consensus workshop, and selection of outcome measurement instruments. Patient partner co-investigators and family advisors were essential to the successful design, conduct, and completion of the two COS. Patient partner co-investigators supported the understanding, inclusion and engagement of family advisors, and helped develop accessible tools to determine patient-oriented outcome measurement instruments. Patient partner co-investigators and family advisors collaborated with the study team to co-develop surveys, modify technical language, and recruit participants to the study. Together, we addressed challenges to patient engagement in COS development such as unfamiliarity with study methods, comprehensibility of materials and ongoing engagement, and power imbalances between team members. Our approach to patient and family engagement in COS development for two rare conditions for children was feasible and considered valuable by all study team members, including patients and family members, in improving the relevance of the deliverable to patients. This approach to patient engagement in developing COS can be applied to other paediatric disease contexts, allowing patient and family perspectives to influence the direction of future studies to develop COS. Core outcome sets (COS) are lists of outcomes agreed upon by a group of people to be measured and reported in studies about certain diseases and populations. Core outcomes are meant to represent what is useful to study from the perspectives of health care providers, researchers and patients. For researchers who seek to include patients in the development of a COS, there is little guidance about how to do this well. We recently developed COS for two rare diseases in children, medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria. We did this by reviewing available information from published research, surveying health care providers, researchers, and patients, and eventually coming to agreement during a workshop. We included two adult patient partner co-researchers who helped design the COS study and co-developed the patient engagement strategy. These partners formed relationships with seven adult family advisors, who helped ensure that materials were accessible, participated in outcome selection, and helped select tools to measure core outcomes. Strategies we used to engage patient partners included a) training about both the scientific research process and how to help other researchers in the future, and b) frequent communication about study progress and how family advisor feedback was used. Also, we made sure that the impacts of power imbalances between health care providers, researchers and patients were low. Our approach to patient engagement in COS development for two rare conditions in children proved to be both feasible and considered valuable by all study team members, including patient partners and family advisors. To include patient perspectives and values, future COS developers may take a similar approach.

© 2021. The Author(s).