Researchers seek clinical trials participants for rare disorders

Two University of Iowa pediatric inherited disease specialists are on a mission.

John Bernat, MD, PhD, a medical geneticist, and Myrl Holida, PA-C, a physician assistant in pediatrics, work with patients with lysosomal storage disorders (LSDs) at University of Iowa Stead Family Children’s Hospital. They are looking for more people to participate in clinical trials that are testing new treatments for the inherited disorders.

Lysosomes are present in each of the body’s cells, working as the primary digestive unit in those cells; the function of the lysosomes is to break unneeded components down from complex to simple. When the breakdown isn’t able to occur, the complex components begin to accumulate—or become stored—in the cells.

A family of disorders

LSDs are inherited diseases caused by an enzyme deficiency that prevents lysosomes in the body’s cells from performing that breakdown. There are about 50 different LSDs—each one is rare on its own, but as a group of disorders they affect one in every 8,000 people. Some of the more common LSDs include Gaucher disease, Fabry disease, Pompe disease, and the mucopolysaccharidoses, a group of conditions in which the body is unable to break down sugar molecules. Symptoms are wide-ranging and include problems with the heart, kidneys, nerves, eyes, and muscles. Many disorders are identified or diagnosed in early childhood, but symptoms may be delayed by as many as 20 to 30 years.

“Right now we see about 100 patients each year,” Bernat says.

University of Iowa Health Care is home to the only medical genetics team in Iowa, which Holida says draws patients from across the state, as well as from many of the bordering states, for treatment.

Complete care

“They come here for treatment not only for the LSDs, but for the comprehensive care they receive when they’re here,” he says. “When they’re here they also see a cardiologist or neurologist, they do their dialysis if they need it—it’s the benefit of being a comprehensive medical center.”

There is no cure for lysosomal storage disorders, but they are manageable, Bernat says. Current treatment involves an infusion of the missing enzyme to help the lysosomes break down the accumulated complex components. He says ongoing and upcoming clinical trials are testing new therapies, including oral treatments that could lessen or eliminate the need for IV infusions.