Treatment with Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy from Sanofi, may help babies with infantile-onset Pompe disease live longer without the need for a breathing machine. Those are the “positive results” seen with the therapy’s use in a late-stage clinical study dubbed Baby-COMET (NCT04910776),…
Discussion
One thing I’ve realized as a mom raising a child with Pompe disease is that I never truly know when her condition is on my daughter’s mind. I always know when it’s on mine — when I’m refilling prescriptions, making appointments, planning infusions, or quietly noticing new…
Discussion
Activating a protein called TRPML1 with two experimental drugs improved the effects of enzyme replacement therapy (ERT) in cells derived from people with Pompe disease, a new study shows. Boosting TRPML1 increased the amount and cell-surface availability of M6PR, a receptor that acts as a “docking station” to…
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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