late-onset Pompe disease

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…

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…

A newborn screening program for Pompe disease in Minnesota was found effective for getting babies with infantile-onset disease started on early treatment, but challenges remain for those with late-onset disease (LOPD). “The management of LOPD cases including the establishment of standardized follow up guidelines … and a better…

The enzyme stabilizer Opfolda (miglustat), one part of the two-component therapy formerly known as AT-GAA (cipaglucosidase alfa/miglustat), has been approved by the European Commission to treat adults with late-onset Pompe disease (LOPD). The news comes a few months after the other part of AT-GAA, the enzyme replacement Pombiliti…

Whenever it was time to play dodgeball in my elementary school years, I was always picked last. Growing up, I wasn’t physically gifted. I couldn’t run, and I moved slowly. For a kid, my balance was uncharacteristically off. Despite being raised in Southern California, I was unable to surf,…

Regulatory approval in the European Union for miglustat, a component of the two-part investigational therapy AT-GAA for adults with late-onset Pompe disease (LOPD), has been recommended by a branch of the European Medicines Agency (EMA), the body responsible for monitoring drug therapies in the EU. A decision on whether or…

Back in the summer of 2018, when I started experiencing some serious symptoms, I wondered if I had ALS or another similar disorder. I noticed I wasn’t able to stand up from a seated position. If I was sitting on the couch, I’d have to extend my arms…

Nearly three years of treatment with Nexviazyme (avalglucosidase alfa) led to long-term improvements in walking ability and lung function for people with late-onset Pompe disease (LOPD), according to new data from the Phase 3 clinical trial COMET. …

Regulatory authorities in the U.S. and the U.K. are expected to decide in the third quarter of this year whether or not to approve AT-GAA as a treatment for late-onset Pompe disease, according to its developer, Amicus Therapeutics. The U.S. Food and Drug Administration (FDA) had previously…