Pitt Pediatrics congratulates Jerry Vockley, MD, PhD, FACMG, for his recent publication in Nature Metabolism, titled “Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.” Vockley is the Director of the Division of Genetic and Genomic Medicine, and the Cleveland Family Endowed Chair in Pediatric Research. Other collaborators on this paper included researchers from the Icahn School of Medicine, Washington University School of Medicine, Oregon Health and Science University, and Vanderbilt University Medical Center, among others. 
Phenylketonuria (PKU) is a rare inherited genetic disorder that causes phenylalanine to build up in the body. If left untreated, PKU can lead to brain damage, intellectual disabilities, or behavioral symptoms. And while there are treatment options available, many patients are still unable to reach target phenylalanine (Phe) levels.
In this research study, Vockley and researchers designed a 14-day test to measure Phe level changes from established baselines in adults with a screening Phe of greater than 600μM, following an intervention of two previously modified Escherichia coli Nissle 1917 strains designed to metabolize in the gut.
Fifteen total participants with PKU completed the study period, showing that both strains lowered Phe levels considerably. One strain lowered Phe levels by 43% and the other by 34% from baseline measurements, neither resulting in adverse events or unexpected side effects.
This important finding shows that synthetic biotics can metabolize Phe in the gut while still lowering both post-prandial plasma Phe levels as well as fasting plasma Phe levels in patients with PKU.
Follow Pitt Pediatrics on Twitter for future advances in genetic and genomic medicine, and for updates from the Center for Rare Disease Therapy.