Inborn errors of metabolism (IBEM) are rare inherited conditions that disrupt the normal processing of food. One such condition is called phenylketonuria, or PKU for short. In PKU, foods containing a substance called phenylalanine, or PHE for short, are not processed correctly. Without intervention, PHE levels can build up in the blood and cause serious irreversible complications. Multiple treatment options are available for PKU, but they are difficult to follow and little information is available to help patients decide which option is best for them.
The Inborn Errors of Metabolism Collaborative (IBEMC) is a multistate group with the goal to understand how IBEM such as PKU work, in order to provide the safest and most effective treatments possible. The IBEMC is currently conducting a study that includes >500 participants with PKU; however, this study was designed without patient partner input.
The long-term objective of this project is to build a network of patient partners and stakeholders who will develop research studies that engage the IBEMC’s PKU patients to compare the effectiveness of different treatment options using outcomes important to patients. The results of these studies will inform treatment decisions of PKU patient partners and providers.
Michigan Public Health Institute (MPHI) will train patient partners and stakeholders to work with one another as equal partners in research. Patient partners and stakeholders will be informed of treatment and outcome variables included in the data, understand that multiple treatment options exist, and work together to identify gaps in knowledge and develop research to find the best treatments for each patient, based on outcomes that are important to patients.
This project will generate several tangible outputs:
- A series of webinars to teach the basic premises of research and train PKU patient partners and stakeholders to work together as partners in research
- A webinar to explain the treatment options that are used by physicians in the IBEMC
- A webinar to introduce patient partners and stakeholders to the data currently collected by the IBEMC
The final outcomes will be that the diversity of stakeholders contributing to IBEMC research will be increased, and gaps in knowledge faced by PKU patient partners and providers will be identified.
Patient partners have been engaged in planning this project, and will be engaged in conducting and disseminating the work.
The lead organization for this project is Michigan Public Health Institute. Partners from University of Minnesota, National PKU Alliance, and Cincinnati Children’s Hospital Medical Center will assist with key elements of the project. In addition, patient partners and providers will be recruited from among 30 metabolic specialty clinics across 27 states, and public health professionals will be recruited from among the same 27 states.