Dr. Susan Berry Shares Your Voice with the World!

Dr. Susan Berry, principal investigator of the PKU Patient Registry, recently shared valuable information with hundreds of clinicians and researchers at the 14th International Congress of Inborn Errors of Metabolism (ICIEM) 2021. She was invited to speak about the development and initial data of the NPKUA’s PKU Patient Registry in a presentation titled “Design and Outcome of Rare Disease Registries in PKU.” The Registry Network’s collective voice reached individuals from more than 70 countries.
The PKU Patient Registry is fortunate to have Dr. Berry’s expertise guiding the Registry efforts over the last year and a half. Dr. Berry is a nationally recognized geneticist and expert in inborn errors of metabolism at the University of Minnesota and serves on the NPKUA Board of Directors. She also has an extensive professional background in rare disease registries as the leader of the NIH-funded Urea Cycle Disorders Consortium Longitudinal Study and the NIH and HRSA-funded Inborn Errors of Metabolism Collaborative. She is a Founding Fellow of the American College of Medical Genetics and Genomics, president-elect for the Society for Inherited Metabolic Disorders, and co-chair of the Steering Committee for the Newborn Screening Translational Research Network.
Dr. Berry’s research focuses on long-term follow-up for newborn-screened conditions, like PKU. She is passionate about providing and improving care for adults and families living with inborn errors of metabolism.
Dr. Berry shared: “I am so pleased to have the opportunity to serve the PKU community through membership on the NPKUA Board of Directors and particularly happy to support the PKU Patient Registry. There is so much power in knowledge shared for the benefit of all engaged. From the beginning of screening for PKU in the early 1950s until now, we have certainly owed it to the PKU community to have a better understanding of outcomes, particularly to improve care and support patients and their families. I'm grateful for the contributions of every single participant in the Registry and hope we can make this an increasingly effective and useful tool to advance PKU care.”

Your Input Matters!

Last year, the PKU Patient Registry helped Synlogic recruit participants for their latest study. They completed their work last fall and are excited to share the results with you! Researchers at the biotech company had two basic questions:

  • Do you want to increase the amount of natural protein in your diet?
  • How much more would you consider meaningful?

Overall, 64 PKU patient surveys and 77 parent/caregiver surveys were completed. Key findings include:

  • Virtually everyone wanted more natural protein in their diet.
  • A significant proportion of participants reported it’s hard to keep Phe levels low (<360 µmol/L), even if they are complying with their prescribed treatment.
  • 2-3 grams of more natural protein per day (1 slice white bread, 1/2 cup broccoli, 1 medium potato) would be considered meaningful by 54.4% of all adult patients, 80.9% pediatric patients and 59.9% of patients on Sapropterin.

This data is important because it helps Synlogic understand – from patients themselves – what a successful endpoint is in clinical trials. Your voice was critical to Synlogic as they developed their upcoming Phase 3 clinical trial, which will evaluate the effectiveness, safety, and tolerability of a potential new oral treatment option for PKU.

More information may be found in the linked report or by viewing the Clinical Trial in PKU Facebook Live event recently hosted by the NPKUA.

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.