Long-term treatment with the combination therapy Pombiliti + Opfolda (cipaglucosidase alfa and miglustat) helps people with late-onset Pompe disease preserve their walking ability and lung function for at least five years, new clinical trial data show. Biomarin Pharmaceutical, which markets Pombiliti + Opfolda after acquiring the…
Discussion
After my daughter Caroline’s Pompe disease diagnosis, our world changed overnight. I was desperate to learn about everything — enzyme replacement therapy, biomarkers, milestones, muscle strength, respiratory function, nutrition, dosages, and lab results. Terms that were once foreign became our daily language. There were appointments, questions, records,…
Discussion
In late-onset Pompe disease (LOPD), damage to muscles starts before visible changes appear, gradually progressing from stress to inflammation, scarring (fibrosis), and attempts at remodeling and repair, according to a small European study. “These findings indicate that [disease-associated] remodelling in Pompe muscle begins before [muscle damage becomes] morphologically evident…
Becoming educated and informed about Pompe is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnist’s words of wisdom to help you along on your Pompe journey.
There is no cure for Pompe yet, but there are treatments that can help manage the disease. Learn more about current therapeutic approaches here.
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