NATIONAL PKU ALLIANCE INC

The npkua held a multidisciplinary science conference in 2024. This unique conference included 80 academic researchers, clinicians, industry partners in a collaborative forum to further the development of treatments for pku. The keynote speaker, from the fda, addressed novel clinical trial designs used in the approval process of drugs for rare diseases. Sessions and discussions included clinical outcome assessment tools, neurocognitive impacts on executive function, relevant clinical outcome using ai, new method to assess anxiety and depression, and symptom severity and impact scale. Focus also included bringing adults back to care and challenges faced with the drug approval process.

Community engagement continues to be a core pillar of the national pku alliance. The community engagement director is responsible for planning and managing programs for the pku community, including a mentoring program, community calls, support kits, maternal pku patient support, advocacy efforts and an affiliate program.the director schedules, manages and attends virtual calls with the community across different pku age groups and pku caregiver types. 48 calls were held in 2024.in 2024, the npkua mentor program grew to support over 30 caregivers and individuals with pku through personalized one-on-one mentoring, with mentors connecting virtually and in person to share experiences and develop skills to better assist their mentees.the npkua 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 committee developed a media toolkit to help community members share their stories. Npkua also supported over 10 state and federal legislative advocacy efforts.in 2024 npkua provided $18,449 to npkua affiliates to support community events and camps in their regions. During the year, npkua also met one-on-one with individual affiliate leaders to better understand their goals and needs. In 2024, 85 newborn kits and/or pku guides were delivered to families welcoming a new baby with pku. In 2024, 55 packages of diet-appropriate food were delivered to maternal pku patients to best support their low-protein diet.