TruePKU Initiative Provides Global PKU Community an Opportunity to Share What It's Like to Live with PKU

People affected by phenylketonuria (PKU) unite to describe challenges of managing PKU and aspirations for the future of PKU treatment

WASHINGTON, Dec. 5, 2024 /PRNewswire/ -- The National PKU Alliance (NPKUA), in collaboration with a coalition of PKU-related patient advocacy organizations, announces the TruePKU initiative, a groundbreaking effort to highlight the lived experience of phenylketonuria (PKU). This initiative aims to fully describe the impact of PKU on the lives of those affected, their current management strategies, unmet medical needs, and treatment benefits that matter most to them to inform development of new therapies.

On May 8, 2025, the TruePKU initiative will culminate with a virtual, externally-led patient-focused drug development (EL-PFDD) meeting, conducted as a parallel effort to the U.S. Food and Drug Administration's (FDA's) PFDD initiative. The meeting will be streamed live, bringing members of the global PKU community together to share their experiences and perspectives. A "Voice of the Patient" report will summarize insights gathered during the TruePKU meeting and throughout the planning process, creating an invaluable resource for researchers, life science companies, regulators, healthcare professionals, PKU community members, and others.

TruePKU will be the first EL-PFDD meeting that brings together four centers from the FDA – Center for Drug Evaluation and Research (CDER), Center for Biologics Evaluation and Research (CBER), Center for Devices and Radiological Health (CDRH), and the Human Foods Program (formerly known as the Center for Food Safety and Applied Nutrition).

Early news about the initiative has generated tremendous interest, validating the need for this initiative. A community member shared, "There is a misconception that PKU is 'fixed' because we have a diet, medical nutrition products, and two approved treatments. But the treatments we have don't work for everyone. And staying on diet your entire life can be a major challenge." An individual with PKU, who is also the caregiver of a son with PKU, said, "My son wants to go to school and eat snacks and lunch like other kids. My treatment priorities have changed through the years, and I'd like us both to have more options as we go through different stages of life." Another community member stated, "PKU affects each person so differently, based on their bodies and the care and treatments they have had access to. Adults treated only with diet during childhood have very different needs than people who have had continuous management. Many factors affect what matters most to an individual for their treatment."

"NPKUA aims to support individuals living with PKU and their caregivers at all life stages. TruePKU presents an immense opportunity for us to shed light on the many needs and expectations of our community members and how they vary from person to person," stated Catherine Warren, executive director of the National PKU Alliance. "In our quest for a cure for PKU, we are thrilled to have this once-in-a-lifetime opportunity to share the true experience of what it's like to live with PKU with the FDA, life science companies, researchers, and more."

Partner organizations supporting outreach about the TruePKU initiative include Canadian PKU and Allied Disorders, flok, Genetic Metabolic Dieticians International, Georgia PKU Connect, Global Association for PKU, Intermountain PKU & Allied Disorders, Metabolic Dietary Disorders Association Australia, Metabolic Support UK, National Society for Phenylketonuria, New England Connection for PKU and Allied Disorders, PKU Aile Derneği Başkanı, PKU Organization of Illinois, SOS PKU Maroc, and Tennessee PKU Foundation. Organizations generously supporting the TruePKU initiative with unrestricted educational grants include Agios Pharmaceuticals, BioMarin Pharmaceutical, Next Generation Gene Therapies (NGGT), Otsuka, PTC Therapeutics, Sanofi, and Tessera Therapeutics.

How to Stay Informed and Get Involved

Visit www.npkua.org/truePKU and complete the sign-up form to receive timely updates about the meeting on May 8, 2025 and other opportunities to participate and spread the word.

About PFDD and the True PKU Initiative

The Patient-Focused Drug Development (PFDD) initiative, initiated by the U.S. FDA in 2013, has been instrumental in providing a comprehensive understanding of the lived experience of more than 115 medical conditions to date. As an externally-led PFDD meeting, the May 8, 2025 TruePKU meeting provides PKU patients with a unique opportunity to express their experiences, needs, and priorities directly to FDA staff, researchers, and developers of medical therapies.

About the National PKU Alliance and PKU

The NPKUA was founded in 2008, with a mission to improve the lives of individuals with PKU and to pursue a cure. Phenylketonuria, or PKU, is a rare metabolic condition affecting approximately 13,500 people in the United States. It is an inborn error of metabolism that requires careful management of phenylalanine (Phe) levels in the body throughout life to prevent severe intellectual disability. To learn more about the NPKUA, visit npkua.org.  

MEDIA CONTACT:
Catherine Warren, Executive Director
[email protected] or 855.675.8211 ext. 6

SOURCE National PKU Alliance