About the PKU Patient Registry

About the PKU Patient Registry
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Phenylketonuria (PKU) is a rare genetic disorder that can lead to a host of neurological and developmental problems. Since PKU is rare, gathering as much information as possible about the disease is important so that researchers can better understand it and develop new treatments. The PKU Patient Registry plays a vital role to this end.

What is the PKU Patient Registry?

The PKU Patient Registry is an international survey registry that the National PKU Alliance (NPKUA) launched in 2017. It aims to collect data about PKU patients to help scientists better understand and manage the disease, establish best practices, and ultimately develop a cure.

The alliance announced that more than 730 PKU patients had enrolled in the registry from 41 U.S. states and 14 countries, as of August 2019.

What are the registry’s goals?

The major goal of the registry is to get a better understanding of the range of symptoms that patients experience throughout their lifetime and the effects of different treatments.

Physicians can then use the information to develop better guidelines and recommendations to improve the outcomes and quality of life for patients.

The registry can also enable researchers to identify additional areas to study and allow patients to find out more information about ongoing research and clinical trials that they may wish to participate in.

Who can participate in the registry?

The registry is open for enrollment to all patients with PKU. Patients or their parents/legal guardians can enter information online into the registry.

What information is collected?

The registry uses a system of online surveys to collect data. These surveys collect information about a patient’s demographics, diagnostic tests, genetics, family history, treatment, diet, medical history, education, maternal PKU status, and insurance. Surveys take around 5–30 minutes each to complete.

How is the privacy of patients protected?

The registry uses a secure website to host survey information. The NPKUA only shares information with researchers and does not sell or share information for advertising or marketing purposes.

 

Last updated: Dec. 10, 2020

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Phenylketonuria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Brian holds a Ph.D. in Biomedical Engineering from Case Western Reserve University and a Bachelors of Science in Biomedical Engineering from Georgia Institute of Technology. He has co-authored numerous scientific articles based on his previous research in the field of brain-computer interfaces and functional electrical stimulation. He is also passionate about making scientific advances easily accessible to the public.
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