late-onset Pompe disease

When I was in my 30s, I started having issues with my lower back. Muscle stiffness often led me to the chiropractor for an adjustment. Sometimes I could barely walk or rotate my body, which would necessitate a trip to the physical therapist. Most of the time, I was told…

While it is not very common, adults with late-onset Pompe disease (LOPD) may go undiagnosed or misdiagnosed, even if they show symptoms or signs suggestive of the disease, a study from Spain has found. Dried blood spots — a form of sampling where a drop of blood is blotted…

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…

Before I was diagnosed with Pompe disease, I had never previously thought about accessibility. I had never pondered what accessibility means, why it is important, or what I would do if I ever had to deal with it in my lifetime. Then the year 2018 hit me…

Disease severity varied widely among adults with late-onset Pompe disease who underwent screening to assess their eligibility to participate in a gene therapy clinical trial, a study reports. Elevated levels of antibodies against the viral delivery vector were one of the exclusion criteria, suggesting that future studies may use…

I’ve been on the hunt for adaptive clothing for years now. My 5-year-old son, Cayden, does fine with regular clothes, but that’s only because we’ve learned how to make it work. Adaptive clothing is something we all enjoy. It makes using his feeding tube much more manageable. Cayden…

The strength of hip muscles and gait wherein only one leg is in contact with the ground were identified as key parameters that affect walking and falls in people with late-onset Pompe disease (LOPD). Both could help assess the effectiveness of new therapies and should be “priority targets for…

A diaphragm pacer may help people with Pompe disease who can’t breathe on their own rely less on a mechanical ventilator during the day, a small study suggests. Many people with Pompe disease have respiratory problems and require full-time ventilation to support breathing, so being able to breathe without…

Pombiliti (cipaglucosidase alfa) plus Opfolda (miglustat), a two-part therapy formerly known as AT-GAA, has been approved by the U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) as a treatment for adults with late-onset Pompe disease (LOPD). “The MHRA approvals for Pombiliti and Opfolda are a major step forward for adults…

Starting people with late-onset Pompe disease on enzyme replacement therapy (ERT) at any age can benefit their bone health, including reducing the risk of weak, brittle bones, or osteoporosis, a small study suggests. The study, “Effects of enzyme replacement therapy on bone density in late onset Pompe…