Project Summary

Background: Inborn errors of metabolism (IBEM) are rare conditions that interfere with the body’s ability to process food, which can cause devastating consequences. Some IBEM have uncertain clinical consequences. Clinicians don’t agree about how or whether these IBEM should be treated. The Inborn Errors of Metabolism Collaborative (IBEMC) studies IBEM and has extensive clinical data; however, outcomes important to patients have not been identified, and comparative effectiveness research (CER) to determine which treatments work best are lacking.

Proposed Solution to the Problem: Connecting clinical data on IBEM to patient-reported outcomes (PRO) is a critical barrier to CER for IBEM of uncertain clinical consequence, since patients typically have no symptoms and therefore are not often seen in clinic. In this project, patients and clinicians will work together to develop strategies to connect existing data from the IBEMC with patient-reported outcomes (PRO) data.

Objective: To link PRO data to clinical data collected by the IBEMC to facilitate research that answers questions important to patients with IBEM of uncertain clinical consequence.


  • Identify existing sources of PRO data for patients with IBEM of uncertain clinical consequence
  • Identify additional PRO measures important to this subset of patients and the appropriate instruments for measuring them
  • Develop sustainable strategies to link new and existing sources of PRO data to existing clinical data from IBEMC
  • Recruit partners critical to implementation of these strategies in future research studies


  • Patients and clinicians will be trained in working as equal partners in research
  • Patients will identify outcomes important to them and PRO instruments to measure them
  • Patients and clinicians will develop strategies to collect and connect PRO data to IBEMC data
  • Patients and clinicians will develop a recruitment and communication plan to recruit key stakeholders in connecting PRO data to IBEMC data

Outcomes and Outputs

  • IBEMC researchers will understand the outcomes important to these patients
  • IBEMC will have strategies to collect new and existing PRO data
  • A valuable resource for designing and conducting CER studies will be established

Impact: Connecting IBEMC data to PRO data will facilitate numerous retrospective and prospective CER studies that are not currently feasible.

Patient and Stakeholder Engagement Plan: Patients will play key roles in identifying PRO instruments that measure outcomes important to them. They will lead efforts to build relationships with key stakeholders and will participate fully in dissemination efforts for this project. Additional stakeholders that will be engaged include clinicians, researchers, members of national patient advocacy organizations, and IT specialists.

Project Collaborators: Cincinnati Children’s Hospital Medical Center and the Inborn Errors of Metabolism Collaborative will work in collaboration with the Michigan Public Health Institute (MPHI) to complete the work of this project.

Project Information

Mathew Edick, PhD
Michigan Public Health Institute

Key Dates

December 2019


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: April 8, 2024