Grant: Project Grant

Rationale: Phenylketonuria (PKU) is a rare disease that usually requires a very restricted diet throughout life. Researchers are studying new treatments for PKU but different studies often measure different outcomes. This makes it hard to compare results and to understand how treatments affect outcomes that matter most to people with PKU and their caregivers. A core outcome set (COS) is a small, agreed-upon set of outcomes that should be included in all studies of a disease. The outcomes are chosen because they are important for knowledge users, for example patients, caregivers, health care providers, and policy-makers who use research to make decisions. A COS can lead to more useful evidence about treatments. Aim: Our goal is to develop a COS for adolescents and adults with PKU. We will use the COS in patient registries and encourage its use by researchers around the world. Methods: We will work in partnership with patients, caregivers, and health care providers throughout the project. First, we will create a long list of possible outcomes by reviewing what is already published and holding workshops with patients and caregivers. We will then narrow down this long list using an international survey. In the survey, patients, caregivers, and health care providers will rate the importance of each outcome. Next, we will hold a workshop where researchers and knowledge users will agree on the final outcomes to include in the COS. For each outcome, we will identify different ways it can be measured and decide which measurement methods are best. Finally, we will include the agreed-upon outcomes and measurement methods in North American PKU patient registries. We will also develop a plan to promote the use of this COS in future studies. Value: A carefully developed COS for adolescents and adults with PKU will help to ensure that research focuses on outcomes that matter. This will support decision-making by patients, caregivers, health care providers, and policy-makers.