The National PKU Alliance (NPKUA) is encouraging people with phenylketonuria (PKU) to join the PKU Registry, which is working to help scientists better understand and manage this disease, establish best practices, and, ultimately, find a cure.
The registry, an electronic database created by the organization and launched in 2017, is open to adult patients. Parents or guardians may participate on patients’ behalf. Go here to join.
Patient data, collected through surveys, will be used to better characterize and describe the PKU population, and to gain more understanding of disease characteristics in patients across stages. Information collected will cover PKU diagnosis and management, patient socio-economic status, access to care, and disease outcomes.
Another goal is to understand changes in PKU patients over their lifetimes, and to learn about clinical practice patterns and variations over the course of treatment.
In addition, the registry aims to facilitate the development of best practice and management guidelines and recommendations so to optimize care and to improve life quality.
Registry participants will also be kept informed of ongoing research studies and clinical trials. Registrants can consent to be contacted by investigators for study recruitment.
Specifically, registry topics of interest to researchers include diagnosis, treatment, diet, nutrition, demographics, medical history, education, genetics, exercise, maternal PKU, insurance, and mood.
Registry participants must be at least 18 years old. Information provided is maintained in a secure database, and identifiable data will not be shared outside of the NPKUA without the registrant’s permission. The organization will, however, give researchers and other approved third parties access to de-identified information.
More than 730 people with PKU, across 41 U.S. states and 14 countries, were enrolled as of August 2019, the NPKUA announced in a website update. Information collected has provided “critical data” for researchers and their projects, it stated.
PKU is a metabolic disorder characterized by increased levels of phenylalanine, an amino acid obtained through diet (amino acids are the building blocks of proteins). Phenylalanine is present in all protein sources and in some non-protein foods, such as soda pop and artificial sweeteners.
Because PKU patients lack an enzyme to properly process phenylalanine, they need to have a lifelong low-protein diet.
The National PKU Alliance works to improve the lives of PKU patients and families through research, support, education, and advocacy, while seeking a cure for the metabolic disorder. An estimated 16,500 people in the U.S., and 50,000 worldwide, are currently living with PKU.
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