Universal screening for Pompe disease can extend newborns’ lives

Twenty states must start screening newborns for Pompe disease, a rare and often fatal genetic disorder that weakens the heart and muscles, says UB researcher Mary Riedy, a clinical pharmacist in rare genetic pediatric disorders.

Currently, only 30 states in the U.S. test for Pompe disease at birth, says Riedy, adding that New York began screening newborns for the disease in 2014. She notes that quickly diagnosing and treating the disorder could extend the life expectancy of patients beyond one year.

Riedy’s recommendations are shared in a report published on Sept. 27 in the Journal of Inherited Metabolic Disease, in which she and other researchers detail the case of a child who was correctly diagnosed with infantile-onset Pompe disease (IOPD) thanks to newborn screening after exhibiting atypical clinical signs and symptoms. The child promptly began treatment for Pompe disease a month after birth.

Pompe disease is caused by a genetic mutation that prevents the body from manufacturing acid alpha-glucosidase (GAA), an enzyme that breaks down complex sugars. These sugars build up in the organs and muscles, leading to challenges with moving, breathing and eating. 

In the U.S., one in every 40,000 people are affected by Pompe disease. Symptoms of IOPD — a more severe form of the disorder — typically develop within a few months of birth, according to the National Institute of Neurological Disorders and Stroke.

“Newborn screening allows for prompt diagnosis in patients who otherwise may have been misdiagnosed or those who present with atypical signs and symptoms of IOPD. We know that time to treatment matters,” says Riedy, Margaret Hempling McGlynn Endowed Chair in Clinical Pharmacy, School of Pharmacy and Pharmaceutical Sciences. “Our case highlights the importance of screening, as early detection can assist providers in diagnosis and prompt initiation of enzyme replacement therapy to improve patient outcomes.”

As UB’s first Margaret Hempling McGlynn Endowed Chair in Clinical Pharmacy, Riedy collaborates with the UBMD Pediatrics Division of Genetics to elevate the delivery of multidisciplinary care for children and adults with rare genetic disorders in Western New York. At UB, she is also implementing an innovative teaching and research program that engages health sciences students and explores new approaches to better support patients diagnosed with rare genetic disorders and their families.