Registry

You have the opportunity to contribute toward PKU research by participating in the PKU Patient Registry. PKU is a rare disease, meaning that there are relatively few people living with this condition. Because of this, little is documented about the long-term medical history and lived experiences of individuals with PKU. This data is critical to improve clinical care and speed the development and availability of new treatments and eventually a cure!

The PKU Patient Registry provides a platform for people with PKU and their caregivers to share their experiences to ensure that we capture the specific needs of our community. Health and quality of life information is shared through surveys on the PKU Patient Registry, which was created under the National Organization for Rare Disorders (NORD) I Am Rare Registry platform.

In addition to medical information, such as treatment and diet, family history, and genetics, the Registry also collects information about first-hand experiences of people with PKU, including mental health history, relationship with food and eating, and social experiences. This helps to capture a more complete picture of life with PKU and makes the Registry a unique opportunity to highlight these very important insights from the PKU community.

The data collected greatly influences the clinical management of PKU, shapes the programs offered at the NPKUA, and supports PKU research initiatives, such as clinical trials. The NPKUA regularly collaborates with clinicians, researchers, and industry partners about the data and insights gathered from the Registry. Registry participants can also use the PKU Patient Registry to track their PKU journey over time and learn about opportunities to participate in external research studies. Your voice matters!

The information that is entered will remain private and will not be linked to your name or any other identifiers. You can view your entry and update your information regularly. We need you to update your profile at least annually so we can capture the most complete view of our PKU community over time.

To share your voice or learn more, visit https://pku.iamrare.org/.

If you have any questions, please contact the PKU Registry Coordinator at registry@npkua.org.

NPKUA Genetic Testing Program

Genetic testing is a type of medical test that doctors use to look for changes called variants in a person’s genes or DNA that can cause diseases. While PKU can be caused by genetic variants in a few different genes, a majority of people with PKU have 2 copies of genetic variants in the PAH gene, one inherited from each parent. Knowing the exact genetic variant can be helpful for predicting disease severity, family planning, and medical management.

Understanding your specific genetic variants is becoming increasingly important in the development of new treatments and therapies for PKU. For example, some treatment options are designed specifically for certain genetic variants and may not work as well in others. Genetic testing is also now typically required for participation in clinical trials, which are a critical step in bringing new treatments to the market.

Participants of the PKU Patient Registry are also eligible to receive no-cost genetic testing through the NPKUA Genetic Testing Program (GTP). This program provides free genetic testing to adults living in the U.S. with a financial barrier to testing. Eligible participants must be a part of the PKU Patient Registry and have their surveys updated within the last year. To learn more about this program, click here or contact the PKU Patient Registry Coordinator at registry@npkua.org.

NPKUA Genetic Testing Program
Importance of Genetic Testing