At this year’s Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, researchers and clinicians are talking about the central role of patients, families, and caregivers in driving change for people living with neuromuscular diseases. Bionews, the parent company of this site, sat down with John F. Crowley, president and…
Conference
The combination therapy Pombiliti + Opfolda (cipaglucosidase alfa/miglustat) may help overcome some of the limitations of standard enzyme replacement therapies (ERT) for treating late-onset Pompe disease (LOPD), according to a recent presentation. Like other ERTs, Pombiliti + Opfolda contains a lab-made version of the enzyme that LOPD patients…
Note: This story has been updated March 6, 2025, to correct a quote from Mindy Henderson, MDA vice president of disability outreach and empowerment. The Muscular Dystrophy Association (MDA) is once again hosting its annual gathering, the MDA Clinical & Scientific Conference. The 2025 event will take place…
Treatment with AT-GAA, Amicus Therapeutics’ experimental two-part therapy for Pompe disease, has now been shown to improve motor function, and to stabilize or improve lung function, for up to four years in adults. That’s according to new analyses from the ongoing Amicus-sponsored Phase 1/2 ATB200-02 trial…
After two years being treated with AT-GAA (cipaglucosidase alfa/miglustat), adults with late-onset Pompe disease (LOPD) maintained their improvements in walking ability and had stabilized breathing function, as well as a reduction in the levels of disease biomarkers, according to…
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. …
I attended an in-person educational presentation on Pompe disease this month in Hershey, Pennsylvania, that was hosted by Sanofi, the creator of two drugs that are treatment options for Pompe. I got to hear great information about “Taking Charge of Your Pompe Disease.” Most of the presentation…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…
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