Caroline Eggerding, MD, Division Head, Pediatric Neurology and Development, led a research team at Cooper University Health Care that was instrumental in conducting clinical trials for a ground-breaking new drug approved earlier this year to treat phenylketonuria (PKU), a rare genetic disorder.
PKU is a rare genetic disorder in which the body is unable to metabolize phenylalanine, an amino acid found in almost every source of natural protein, as well as a number of sweeteners. It affects about 1 in 10,000 to 15,000 people in the United States. If untreated, PKU can cause chronic intellectual, neurodevelopmental, and psychiatric disabilities.
In May, The U.S. Food and Drug Administration approved Palynziq (pegvaliase-pqpz), a novel enzyme therapy for adult PKU patients who have uncontrolled blood phenylalanine concentrations on current treatment.
“We are excited that medical science has found a new treatment for PKU,” said Dr. Eggerding, who manages the care for more than 100 PKU patients at Cooper. “While all patients may not be candidates for this new therapy, it gives patients and their families hope that the medical community continues to find ways to improve the lives of patients.”
Typically, 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 often have trouble with compliance, especially as they grow into adolescence and adulthood, explained Dr. Eggerding. Adults with PKU who do not follow this diet may have increasing difficulties with memory, focus, organizational skills, and emotional control, and may have 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.
About Cooper University Health Care
Cooper University Health Care is a leading health care provider and the only state-designated Level 1 Trauma Center in South Jersey. With a network of more than 100 medical offices throughout the region, Cooper is home to MD Anderson Cancer Center at Cooper and the Children’s Regional Hospital at Cooper. Cooper offers signature programs in cardiology, critical care, neurosciences, pediatrics, orthopaedics, and surgical specialties. For more information visit www.CooperHealth.org.
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