A team of researchers from Cooper University Health Care played a key role in clinical trial development of a new, leading-edge drug approved earlier this year for the treatment of phenylketonuria, a rare genetic disorder.
PKU is a rare condition in which the body is unable to metabolize phenylalanine, an amino acid found in almost every source of natural protein and a number of sweeteners.
In May, the U.S. Food and Drug Administration approved Palynziq from California-based BioMarin Pharmaceutical Inc. Palynziq is a novel enzyme therapy for adult PKU patients who have uncontrolled blood phenylalanine concentrations on current treatment.
“This medicine is a significant step forward,” said Dr. Caroline Eggerding, division head, Pediatric Neurology and Development, at Cooper.
Eggerding, who led the research team, told NJBIZ that Cooper was one of several clinical trial sites. The team was involved with screening patients, among other things, making sure they met health criteria and were aware of the risk factors. They also prescribed the medication, monitored patients, conducted routine visits and ordered lab tests.
In the U.S., about 16,500 people are living with PKU and approximately 350 babies are born with it each year. People affected by PKU have difficulty breaking down phenylalanine, an amino acid found in all natural protein. If untreated, health care experts say PKU can cause chronic intellectual, neurodevelopmental and psychiatric disabilities.
Since phenylalanine is found in many foods such as chicken, meat, eggs, dairy, nuts, grains, and legumes, people with PKU typically must eat a special diet.
According to Eggerding, patients with PKU must follow a strict diet that is low in phenylalanine — and consequently, low in protein — for their whole lives. In order to keep growth on track during childhood and meet the body’s protein needs, they also must drink a special phenylalanine-free protein formula.
Because the diet is so restrictive — even more so than a vegan diet — patients sometimes have trouble with compliance, especially as they grow into adolescence and adulthood, Eggerding said.
Adults with PKU who do not follow this diet may have problems with memory, focus, organizational skills and emotional control in addition to increased levels of anxiety.
All babies in the U.S. are screened at birth for PKU due to its severe consequences on the brain if untreated in early childhood.
“Because we have been part of the study, the team is better able to help patients understand PKU. For our patients, they can come to Cooper knowing that our team has the background and experience with this medication because we were involved with the clinical trials,” she said.