NATIONAL PKU ALLIANCE INC

Programs

1. The npkua approved 5 research grants from the 2025 research grant cycle for a total of $425k. The research projects focus on pku assessment tools as well as pku treatments and therapies that drive progress toward a cure. As of 2025, the npkua has awarded $6,419,699 in support of 88 research projects.

   $659,425 spentof which $424,958 as grants
   42% of program spending

2. 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 2025 with 250 attendees.in 2025, the npkua mentor program grew to support over 45 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 an advocacy media toolkit to help community members share their stories. Staff and advocacy committee volunteers have also responded to the termination of the achdnc (advisory committee on heritable disorders in newborns and children) by…

   $497,406 spentof which $34,057 as grants$28,375 earned by the program
   32% of program spending

3. The npkua held a multidisciplinary science conference in 2025. This unique conference included over 100 academic researchers, clinicians, industry partners in a collaborative forum to further the development of treatments for pku.the keynote speaker, dr. Peter marks from the fda, addressed novel clinical trial designs used in the approval process of drugs for rare diseases. Sessions and discussions included novel approaches to clinical trial design for rare diseases, developing neurocognitive outcome assessment tools to best determine the impact of new treatments, strategies to overcome challenges related to dietary data collection for clinical trials, and managing sustainability in clinical trials. Focus also included bringing adults back to care and challenges faced with the drug approval process.

   $138,267 spent
   9% of program spending

4. Npkua hosted the truepku initiative to share the pku experience with u.s. Food and drug administration (fda) staff, people working in life science companies, health care professionals and academic researchers to help shape the development of new medical therapies and approaches to treating and monitoring pku. As part of the externally-led patient-focused drug development (el-pfdd) program, this meeting took place virtually on may 8, 2025 in partnership with other pku-related organizations and sponsors. 31 members from the pku community shared their testimony. The voice of the patient report summarizes the meeting insights, personal stories and key themes shared throughout the five-hour meeting, including powerful quotes from community members and perspectives gathered before, during and after the event. Both the live meeting and report can be found at www.npkua.org/truepku/. The meeting has attracted 1,300 views on youtube.

   $117,292 spent$10,578 earned by the program
   8% of program spending

5. In 2025, the npkua hosted a regional community conference on september 6 in san diego, california. Attendees included 47 individuals with pku, their families/caregivers, industry partners, and leading experts in the field of pku research, clinical care, nutrition, and advocacy. In total, we welcomed 180 attendees. We held meaningful conversations through educational presentations and activities discussing what's new in pku, staying active with pku, clinical trials, food and formula offerings, gene editing and gene therapy, traveling with pku and home phe monitor development.

   $83,918 spent$4,368 earned by the program
   5% of program spending

6. In the pku patient registry, npkua upgraded the platform, strengthening the registry's ability to support pku research. Registry participants grew to 1,130, with 864 new survey submissions in 2025. The registry supported recruitment for 4 external research studies and shared data in its first scientific publication.

   $67,571 spent
   4% of program spending

The 6 programs described on its FY2025 Form 990, listed largest first by expense. Program spending in total: $1,563,879.