Welcome to the PKU Registry! The registry is created for the following reasons:
To characterize and describe the PKU population as a whole and to gain a better understanding of the spectrum of clinical phenotypes in individuals with PKU of all stages. This includes but is not limited to collect information on: diagnosis, management, access to care, socio-economic environment and outcomes.
To understand the longitudinal changes of PKU over a lifetime as well as to gain information on clinical practice patterns and variations over the course of treatment.
To facilitate the development of best practice and management guidelines and recommendations to optimize care, improve quality of life and outcomes and standards of care.
To provide information regarding ongoing research studies and clinical trials. Participants may consent to be contacted by researchers for recruitment into IRB approved studies.
The National PKU Alliance (NPKUA) has created this registry as part of its mission to improve the lives of individuals with PKU and puruse a cure. The NPKUA was formed in 2008 by parents, grandparents, and individuals across the country just like you. We unite adults, families, regional and statewide PKU organizations, the medical community and industry professionals to make a difference in the lives of people with PKU.
This registry is open to all individuals with PKU. It can be completed by the parent or guardian of the person with PKU, or by the person with PKU, if they are able. Please be sure to carefully read the informed consent document before agreeing to participate in the registry. This document contains detailed information on how registry data will be collected, stored, and used. Please read through this information and contact us with any questions. If you are comfortable with all of the terms of the consent document, you can electronically sign it and proceed to set up your account and answer the registry questions. If you've already signed the consent document and set up your account, you can log in directly.
Thank you for helping us improve the lives of individuals with PKU.
For additional information or inquiries, please contact us at: firstname.lastname@example.org
For access to downloads of IRB approved PKU Registry Protocol and Informed Consent documents, contact us at: email@example.com