The Michigan Public Health Institute (MPHI) received a grant from the Patient Centered Outcomes Research Institute (PCORI) in 2016 to establish the first stakeholder network under the IBEMCSN. The long-term goal of this project is to build a network of patient partners and other stakeholders focused on developing meaningful Comparative Effectiveness Research (CER) that informs the treatment decisions of patients with PKU and their providers. Of the over 2,100 subjects enrolled in the IBEM-IS, over 500 are diagnosed with phenylketonuria (PKU). PKU is an IBEM that leads to the impaired processing of foods that contain phenylalanine (PHE). Failure to treat PKU from birth can lead to devastating irreversible neurological impairment.
There are several accepted treatment options available for treating PKU including following a PKU diet, using specialized PKU formula, or using PKU medications. The goal of treatment is to reduce PHE levels in the blood below a threshold value to reduce the risk of neurological impairment. While evidence exists that each of these treatments can effectively lower PHE levels, which option is most effective at achieving outcomes important to patients has not been studied.
Over the last two years, the PKU stakeholder network has been working to learn about gaps in knowledge about available treatment options, identify outcomes important to patients, and develop a comparative effectiveness research proposal to submit for funding.