Program areas at National Pku Alliance
The npkua patient registry is a secure database that is designed to collect health information to help researchers, clinicians and the npkua better understand the patient experience with Pku. The registry provides an assessment of people with Pku including genotypes, phenylalanine levels and other health data.during 2023, the registry supported recruitment for 9 academic and industry studies. The npkua collaborated with over 10 industry and academic partners to support product development and research of novel Pku treatments and therapies.the npkua presented registry data and/or best practices for managing patient registries at 5 large conferences and meetings.
In 2023, the npkua hired a director of community engagement. The director is responsible for planning and managing programs for the Pku community, including a mentoring program, community calls, advocacy efforts and a volunteer program.the director schedules, manages and attends virtual calls with the community across different Pku age groups and Pku caregiver types. 42 calls were held in 2023.the npkua volunteer group continues to be a source of support as we call on members to provide feedback, support significant projects and plan for future endeavors and events.lastly, the advocacy committee works alongside members of the broader rare disease community to advance efforts around nutrition, equity and other priorities of the Pku community.
The npkua held its first multidisciplinary science conference, "break free from phe", in 2023. This unique conference included 80 researchers, clinicians and industry participants in a collaborative forum to further the development of treatments for Pku. The objectives were to inform clinical endpoints for drug development clinical trials.
Awarded $550,000 across 5 grants that supported 3 researchers in 2023 and 5 in 2024. The research projects focus on improving psychological assessments for Pku patients, as well as Pku treatments and therapies and path to a cure. $415,304 was funded in 2023, with the balance paid in 2024.