Doctors can’t cure Pompe disease. But treatment can help babies, children, and adults with the condition live longer, and often with fewer complications.
In 2006, the FDA approved the first treatment for Pompe disease. It consists of regular IV infusions of a man-made enzyme called alglucosidase alfa. The drug does the job of an enzyme in your body that doesn't work correctly when you he Pompe disease. This process, known as enzyme replacement therapy (ERT), is still the only treatment approved for the condition.
Before ERT was ailable, newborns diagnosed with the classic infantile form of Pompe disease rarely lived longer than a year.
“Without ERT, babies with infantile Pompe disease he a progressive thickening of the heart muscle and develop significant skeletal muscle weakness that leads to death in the first year of life,” says Priya Sunil Kishnani, MD, a pediatrician and clinical and biochemical geneticist at Duke University Medical Center.
The disease also damages skeletal muscles and the muscles you need to breathe.
“Babies who don’t receive ERT become so weak, they lose any previously achieved motor milestones, such as the ability to roll over,” says Kishnani, the Chen family distinguished professor of pediatrics at Duke.
The infusion therapy has dramatically improved the outlook for these children. The first babies treated with ERT are now in their 20s. ERT also helps children and adults diagnosed with late-onset Pompe disease.
Multidisciplinary support gives people with Pompe a chance for a much better overall outcome.
Priya Sunil Kishnani, MD“There are a lot of unknowns and anxiety for families with Pompe disease, but I would like them to know the field is evolving rapidly and there is much to be hopeful about,” Kishnani says.
It's important to note that ERT is only one part of overall care, she says. People with Pompe disease need treatment from multiple health care professionals for the best quality of life.
“ERT is lifesing, but it’s the overall management of the disease, which includes the right nutrition, physical therapy, and other specialty care, that really impacts the outcome,” she says.
Team Treatment for Pompe DiseaseA clinical geneticist is often the main doctor who manages care for Pompe disease. Other specialists treat complications the condition can cause.