PKU Patient Registry Update

Eileen Blakely, MS, RD, Registry Coordinator, provides an update on the PKU Patient Registry.



PKU Patient Registry – Two Years and Going Strong

Two years ago we launched the PKU Patient Registry in January and it is one of 25 rare disease registries housed on the secure platform supported by NORD. The PKU Patient Registry continues to be one of the NPKUA’s major focuses as a way to collect data that will fuel research. Here is a sample of what we have learned so far:

  • The PKU Community is engaged! The PKU Registry is one of the most active registries on the NORD platform with the second highest enrollment. The 734 consented participants have submitted over 4900 surveys so far.
  • Our registry participants represent 41 different U.S. states and 21 countries.
  • 59% of registrants are parents of children with PKU (youngest age 2 weeks) and 39% are adults (oldest age 67 years).
  • 22% are married, 30% are working full or part-time and 34% are students. Enrollment of adults with PKU increased in 2018 and provides important information on PKU and aging. A PKU Quality of Life Survey was added that captures the impact that treatment demands can have on daily living.
  • The Medical History Survey reveals that 37% of participants have experienced anxiety and 24% experienced depression at some point in their lives.
  • The Insurance Survey reinforces the need for legislation requiring mandatory treatment coverage.  62% of participants have some type of coverage for medical food (formula), but more than half have had difficulty using that benefit. Only 28% have coverage for modified low protein solid foods, and more than 65% have had difficulties with that benefit.
  • Registry participants who were eligible for participation in clinical trials were identified and provided information about these opportunities based on requests from PKU researchers.

We ended 2018 with gratitude to the more than 700 participants who have taken the time to complete their surveys that are so crucial to the NPKUA’s mission “to improve the lives of individuals with PKU find a cure.”

PKU Patient Registry with Jean Koch

Jean Koch, wife of Dr. Richard Koch, discusses the importance of the PKU Patient Registry.



Are you interested in knowing your/your child's PAH mutation?

The NPKUA has partnered with Baby Genes Inc. to assist hundreds of people diagnosed with Phenylketonuria (PKU) obtain simple and affordable access to mutation analysis of the PAH gene responsible for PKU. Baby Genes' full gene sequencing technology provides accurate, efficient results identifying specific mutations associated with PKU. Currently, access to mutation analysis is not standard of care in PKU.
Through the Baby Genes program, individuals will learn their specific gene mutations which will facilitate the advancement of new treatments and provide a better understanding of the disease process for those in PKU research.
This program is currently open to any individual or family member enrolled in the PKU Patient Registry. The goal of the PKU Patient Registry is to collect information to help medical providers better understand the natural history and progression of PKU and provide opportunity for more robust research and ultimately a cure.
And at the end of September - we will be selecting the name of one individual who has completed the genetics survey in the PKU Registry to receive mutation analysis free of charge. This is the perfect time to complete this short and very important survey. Get Started today!

Thanks for your important contribution.

Female Reproductive and Maternal PKU Surveys Video

Learn how easy it is to complete both the Female Reproductive and Maternal PKU Surveys.