The PKU Patient Registry: Development of a patient-driven registry and initial outcomes

Abstract

A patient registry facilitates collection of data on a group of patients with similar conditions. While some registries collect clinician-input data, patient-entered registries prioritize the perspective of patients and families. To better support research for phenylketonuria (PKU), National PKU Alliance (NPKUA) launched the PKU Patient Registry in 2017 to collect patient-entered lived experience and natural history data. It gathers medical information and queries the lived experience of PKU through the completion of surveys, developed by a group of key stakeholders, individuals with PKU, and healthcare providers which includes validated tools and patient surveys. The data collected provide insights about the needs of the community and assist in recruitment for external research studies. This Registry uses the National Organization for Rare Disorders' IAMRARE® platform, as it is a secure, user-friendly system compliant with federal and state information privacy laws. The Registry and participant data are owned by NPKUA on behalf of the PKU community and are governed by NPKUA and the Registry Advisory Committee. As of November 2024, there are 1125 consented participants representing 46 states plus the District of Columbia and 36 different countries with the completion of 123,044 surveys over the past seven years. Since the Registry's inception, it has supported recruitment for over 35 external research studies and shared anonymized data through industrial and federal collaborations. The PKU Patient Registry collects longitudinal patient-entered data and allows for collaboration with other PKU datasets, permitting an improved understanding of the natural history of this condition.