Heart problems in late-onset Pompe disease appear milder and less specific than in the disease’s infantile-onset form, a review study found. While heart scans can detect these changes, further research is needed to fully understand them, according to the researchers, who reviewed data from 11 previous studies. “Knowledge of…
News
While most adults on Myozyme (alglucosidase alfa) for late-onset Pompe disease develop antibodies to the replacement enzyme, these usually do not limit efficacy; however, high and sustained levels of neutralizing antibodies are linked to more infusion-associated reactions and may lead some patients to stop therapy, a study found. The…
Certain immune cells in people with late-onset Pompe disease (LOPD) show abnormal activation that may be linked to differences in how patients respond to treatment, a new study suggests. Researchers found that T-cells, a type of immune cell that helps coordinate the body’s response to infections and other threats,…
Misdiagnosis and lengthy diagnostic delays define the experience of many adults living with late-onset Pompe disease (LOPD), a new survey finds. Even after they finally receive a diagnosis, patients continue to face widespread gaps in healthcare provider awareness and communication, alongside insufficient pain management and psychological support. “These exploratory…
Newborn screening is uncovering signs of Pompe disease in infants months or even years before obvious symptoms appear, allowing for early treatment that can normalize markers of muscle damage, according to new research. A study tracking seven children with late-onset Pompe disease (LOPD) found that starting enzyme…
Home-based administration of Pombiliti plus Opfolda (cipaglucosidase alfa/miglustat), an approved combination therapy for late-onset Pompe disease (LOPD), appears to be safe for certain adults with LOPD, according to a pooled analysis from three clinical trials. In reviewing more than 9,000 treatment doses given to about 150 patients worldwide…
A Phase 2 clinical trial testing the experimental oral therapy S-606001 as an add-on treatment for adults with late-onset Pompe disease (LOPD) has begun enrolling patients, according to an announcement from the trial’s sponsor, Shionogi. “This is an important milestone for Shionogi, as we continue to expand our…
ABX1100, an experimental substrate reduction therapy for late-onset Pompe disease (LOPD), was well tolerated and seemed to work as designed in an early clinical trial involving nine adults with LOPD, new data show. Developer Aro Biotherapeutics noted that, in addition to meeting the study’s primary endpoints, or goals,…
Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…
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…
Recent Posts
- Study finds milder heart issues in late-onset Pompe disease
- I’ve had to learn how to keep living in the waiting room of rare disease
- Pompe study ties high antibodies to infusion reaction risk
- Home infusions take us to as close to normal as I ever thought we’d get
- Immune changes seen in late-onset Pompe may affect treatment response