treatment

People often ask how my daughter Caroline handles her infusions. The answer changes depending on the season of life we’re in. Sometimes even the day. When Caroline was a baby, accessing her port was so hard. She didn’t understand what was happening — only that strangers held her down…

Tomorrow, my daughter Caroline has an infusion. If you asked her about her summer excitement, she’d talk about the pool. The weather has been beautiful, and we’ve taken full advantage. In these first days of summer, she splashes with friends, races barefoot across the deck, begs for “just five more…

Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…

Combining the allergy medicine omalizumab with a desensitization protocol helped a 40-year-old woman with Pompe disease overcome a persistent allergic reaction to enzyme replacement therapy (ERT), according to a case report. People with Pompe disease who experience hypersensitivity, or allergic reactions, to ERT often undergo desensitization, a strategy…

When my daughter Caroline was diagnosed with late-onset Pompe disease as a baby, we started enzyme replacement therapy before her first birthday. I remember spending what felt like endless hours at our children’s hospital, meeting new doctors and nurses, going through test after test. At first, it was…

Certain immune cells in people with late-onset Pompe disease (LOPD) show abnormal activation that may be linked to differences in how patients respond to treatment, a new study suggests. Researchers found that T-cells, a type of immune cell that helps coordinate the body’s response to infections and other threats,…

Newborn screening is uncovering signs of Pompe disease in infants months or even years before obvious symptoms appear, allowing for early treatment that can normalize markers of muscle damage, according to new research. A study tracking seven children with late-onset Pompe disease (LOPD) found that starting enzyme…

Home-based administration of Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat), an approved combination therapy for late-onset Pompe disease (LOPD), appears to be safe for certain adults with LOPD, according to a pooled analysis from three clinical trials. In reviewing more than 9,000 treatment doses given to about 150 patients worldwide…

Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…

When our daughter Caroline was diagnosed with Pompe disease through newborn screening in 2018, our world turned upside down. We were suddenly lost, searching for answers amid a flood of tests, labs, and medical opinions. We chose to start enzyme replacement therapy (ERT) within her first 12 months.