Health Team

Duke develops therapy treatment to help treat rare genetic disorder

Posted December 18, 2015

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— Five years ago, well before his most recent appearance in the "Star Wars" saga, actor Harrison Ford played a doctor in "Extraordinary Measures."

Ford played a researcher who discovered a new drug to treat Pompe disease, an inherited and often fatal disorder that disables the heart and skeletal muscles.

In reality, that drug was developed at Duke University, where it was used to save the lives of many children and adults who had the disease.

Researchers at Duke have now developed another therapy for Pompe: a method that helps patients breathe easier.

Patients with Pompe disease lack an important enzyme that breaks down a starch called glycogen. The starch builds up in skeletal muscles and in the heart. Infants diagnosed with the disease typically die before their first birthday.

A new enzyme replacement therapy developed in Durham is changing that.

Fourteen-year-old Shaylee Boger, of Texas, has the adult onset form of Pompe disease.

"They started seeing signs and symptoms ever since I was born," Boger said.

Those symptoms, which worsened over time, included muscle weakness and difficulty breathing.

"Looking back, we realize how many respiratory problems she had. Every six weeks she was in the hospital with pneumonia," Buffy Boger, Shaylee's mother, said.

More than a year ago, Shaylee came to Durham to begin Duke's new enzyme replacement therapy. In adolescents and adults, the infusions stabilize the effects of Pompe.

Despite that, the muscles Shaylee uses to help her inhale and exhale were still weak.

She joined a study led by Duke speech pathologist Harrison Jones, who developed a regular regimen of respiratory muscle workouts using small devices.

According to a study of patients who took part in Jones' treatment plan, patients inspiratory muscle strength increased 20 percent during a 12-week period. Expiratory muscles strengthened 16 percent during that time.

Three months after stopping the regimen, Jones says patients maintained or improved their breathing muscle strength.

"She began to have some energy she hadn't had in the past, and she didn't get as winded," Buffy Boger said of her daughter. "She didn't get as tired."

Shaylee has returned to a more active life at school and on her family's ranch in Texas.


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