Emory University's Department of Human Genetics Announces A Collaboration With the National PKU Alliance to Test Three Home Phenylalanine Monitoring Devices for Phenylketonuria (PKU) Patients - First Study of Its Kind in the World

Published on 05/21/15

Emory University’s Department of Human Genetics is collaborating with the National PKU Alliance to test three home phenylalanine monitoring devices for phenylketonuria (PKU) patients and is the first study of its kind in the world.



Emory University’s Department of Human Genetics is collaborating with the National PKU Alliance to test three home phenylalanine monitoring devices for phenylketonuria (PKU) patients and is the first study of its kind in the world.  Children and adults with PKU (an inherited metabolic disorder), are identified through universal public health newborn screening and cannot breakdown the amino acid phenylalanine in the body. High phenylalanine levels in the blood can cause irreversible brain damage. With successful treatment from birth, however, blood phenylalanine can be normalized. Patients with PKU must follow a low-protein diet to limit phenylalanine intake and must also consume synthetic medical food to provide a phenylalanine-free source of protein. Like a person with diabetes, it is important to monitor blood phenylalanine concentrations regularly across the lifespan. Monitoring blood phenylalanine provides an opportunity to evaluate the impact of dietary and medical treatment. Currently, patients and families must visit a metabolic clinic or send a filter paper from home so clinicians can measure blood phenylalanine concentrations, which can be a burden for patients.  A real time, point-of-care and home phenylalanine monitoring system, similar to a blood glucose monitor for diabetes, would provide patients with quick results and feedback.


The National PKU Alliance Scientific Committee has selected three phenylalanine prototype devices to be tested in this pilot-study from a pool of candidates who were funded through their grants.  PKU patients from the Department of Human Genetics Metabolic Clinic have been recruited to participate for the pilot-study.  Study subjects will complete a blood draw and finger stick by Emory study staff on Thursday, May 21, 2015.  Their blood will be used to compare the results of each of the three devices to the current gold-standard in phenylalanine monitoring, plasma concentration, performed by the Emory Genetics Lab.  The results will be summarized and reported to the PKU Alliance Scientific Board as preliminary data for any further validation studies.  Emory is excited to be involved in this groundbreaking study, as it has the potential to change PKU management and improve outcomes for patients.

The Emory News Center posted an official press release and video about the Home Phe Monitor Study that took place on May 21st, which can be found here

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