My 5-year-old son, Cayden, has been through more in his few years of life than most adults have in all of theirs. When he was diagnosed with infantile-onset Pompe disease via newborn screening shortly after his birth, I knew his life wouldn’t be easy. But I had…
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Pombiliti (cipaglucosidase alfa) plus Opfolda (miglustat), a combination therapy formerly known as AT-GAA, has been approved by the U.S. Food and Drug Administration (FDA) to treat certain adults with late-onset Pompe disease (LOPD) who are not improving on their current enzyme replacement therapy (ERT). Its developer, Amicus…
Adding the enzyme stabilizer miglustat did not improve the effectiveness of Lumizyme (alglucosidase alfa) or Nexviazyme (avalglucosidase alfa) in a mouse model of Pompe disease, a new study reports. “These data demonstrate that co-administration of miglustat with either [Lumizyme or Nexviazyme] to Pompe mice provides no additional…
I’ve become so used to my routines that when an abrupt change happens, it throws me off. Recently, a substitute nurse filled in for the one who usually attends school with my 5-year-old son, Cayden, who has infantile-onset Pompe disease. Cayden is accustomed to having a nurse with him…
Unexpected change requiring a temporary nurse puts columnist Keara Engle on edge, but everything works out in the end.
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