Project Summary

Background: Rare diseases are defined as diseases that affect fewer than 200,000 individuals in the United States. When all rare diseases are combined, an estimated 15 million children in the United States have a rare disease. Research to improve treatment and support for these patients is hindered by small numbers of individuals with each disease and the variability of symptoms within and between diseases. Despite these differences, shared experiences of rare disease in children suggest that there may be overarching goals for families impacted by rare disease and that these may be addressed through patient-centered outcomes research (PCOR).

Proposed Solution to the Problem: The project team is proposing the engagement of patients and parents impacted by rare diseases and clinicians and researchers who work in rare disease to identify shared PCOR priorities for research across the rare disease community. This is made feasible through partnerships and resources available in Genomic Answers for Kids, a genomic research repository for rare disease at the Children’s Mercy Hospital in Kansas City, Missouri.

Objectives: The team will engage patients and parents of children with rare diseases, clinicians, and researchers to identify shared priorities for and barriers to PCOR focused on ethical, legal, and social issues (ELSI) around living with rare disease and rare disease research.

Activities: The project will build a stakeholder collaborative (SC) of patients and parents impacted by rare disease and clinicians and researchers who care for and research rare diseases. The SC will be trained in PCOR, comparative effectiveness research (CER), and ELSI research in rare disease and genomics, then will conduct listening sessions to identify shared priorities for PCOR around ELSI in 150 diverse patients and parents impacted by rare diseases. The information from these listening sessions will be used to develop a research agenda that can guide PCOR across pediatric rare disease groups.

Projected Outcomes and Outputs: Establishment of SC, development of manuals and processes for engaging stakeholders in PCOR and training of a representative group of patients, parents, clinicians, and researchers who are stakeholders in rare disease research on PCOR goals and methods. The SC will generate a listening session process and discussion guide that will be shared as a PCORI engagement tool. They will also publish a report in the academic literature describing the SC collaboration, the methodology of the listening sessions, and shared PCOR priorities and barriers identified as examples of using the strategy across disease groups. The final SC output will be a research agenda to guide ELSI-related PCOR in GA4K and pediatric rare disease research.

Patient and Stakeholder Engagement Plan: This project will include in-depth collaboration with one lead parent advocate and with all 20 members of the stakeholder collaborative (SC). In addition, broader but less intensive engagement with listening session participants will allow for more diverse representation of the rare disease community in the project.

Project Collaborators: The team is partnering with RareKC, a local organization that works with individuals and disease-specific advocacy groups to elevate their voices and identify common priorities. RareKC will work with the project team to identify members for the SC and share information about listening sessions. The Children’s Mercy Patient and Family Engagement Program will also support the identification of SC members and listening session participants. Representation of ethnic diversity in the SC and listening sessions will be supported by Children’s Mercy clinicians caring for diverse populations of rare disease patients and by Tamara Falicov, PhD, a local community-based researcher in the Latinx community. 

Project Information

Courtney Berrios, MSc, ScM
Children's Mercy Hospital

Key Dates

24 months


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: September 26, 2023