Wearable digital health technologies (DHTs) may help identify subtle walking and movement impairments in people with late-onset Pompe disease (LOPD) that are not evident in standard clinical evaluation, a recent study in Italy shows. These technologies “may have important implications for management, follow-up, and treatment decisions in clinical practice,”…
mobility
An experimental gene therapy known as GC301 improved motor function and cardiac outcomes for three out of four infants with infantile-onset Pompe disease (IOPD) in a small clinical trial. The treatment was also well tolerated. One year after treatment, these three participants had reached milestones such as…
Switching from Lumizyme (alglucosidase alfa) to Pombiliti + Opfolda (cipaglucosidase alfa and miglustat) improved or stabilized motor function, muscle strength, and lung function in adults with late-onset Pompe disease (LOPD). That’s according to a new analysis from the Phase 3 PROPEL trial (NCT03729362) that also showed…
A test that measures walking speed over 10 meters (33 feet) offers a simpler and less demanding alternative to the commonly used six-minute walk test for evaluating walking performance in Pompe disease, and may be a better option for patients who have difficulty covering longer distances. In a French…
Ever since he was an infant, my son Cayden, who’s now 7, has needed to use orthotic devices. He was diagnosed with infantile-onset Pompe disease via newborn screening, and these devices seem to be common among that community. His journey with orthotic devices started when he was a few…
As summer approaches, I’ve been thinking a lot about whether I want to move my children into a new house. We could use another bedroom, as I have three little boys now, and my youngest, Kylan, who’s 7 months old, will be ready to transition out of my bedroom soon.
“The Pompe Community Diaries” is a series that follows the journeys, musings, and challenges of those in the Pompe disease patient community. This week, I’m introducing Katy Arvidson, who is the current Ms. Wheelchair Alaska USA. Katy is wheelchair- and ventilator-dependent because of Pompe disease. She lives in…
Switching from Lumizyme (alglucosidase alfa) to Pombiliti + Opfolda (a combination of cipaglucosidase alfa and miglustat) may help patients with late-onset Pompe disease move around more easily, suggesting a shift toward better quality of life, according to an exploratory analysis of Phase 3 data. The Phase…
Switching from Myozyme (alglucosidase alfa) to Nexviadyme (avalglucosidase alfa) led to gains in motor function and laboratory markers for four children with infantile-onset Pompe disease (IOPD) who took part in a compassionate use program in Italy. One child who’d had persistent heart disease on Myozyme also saw…
Now that summer is here in full force, I’ve been finding things to do with my 6-year-old son, Cayden, and his baby brother, Kyree. We’re now battling a terrible heat wave here in Pennsylvania, which makes going outside miserable. We’ve been experiencing temperatures in the 90s for days on end,…
Recent Posts
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- Combination therapy helps control allergic reaction to ERT for Pompe
- Pompe disease hasn’t changed my desire to have a friend and be a friend