An MRI study found that children with classic infantile-onset Pompe disease show more widespread involvement of the lower leg muscles than young people with the late-onset form, who tend to have greater involvement of the thigh muscles. A technique called T2water mapping detected abnormalities in muscles where fat replacement…
News
Two newly identified mutations in the GAA gene, along with a previously known variant of unclear significance, were found to reduce the activity of the enzyme whose deficiency causes Pompe disease, a study has shown. The three variants appeared to produce unstable forms of the enzyme that were prone…
Combining the allergy medicine omalizumab with a desensitization protocol helped a 40-year-old woman with Pompe disease overcome a persistent allergic reaction to enzyme replacement therapy (ERT), according to a case report. People with Pompe disease who experience hypersensitivity, or allergic reactions, to ERT often undergo desensitization, a strategy…
A middle-aged woman with late-onset Pompe disease (LOPD) developed damage to her sensory nerve cells after receiving the gene therapy candidate AT845 — in development as a Pompe disease treatment — in a clinical trial, according to a new case report. While the woman’s symptoms, particularly reduced sensations…
The first patient has been dosed in a Phase 1/2 clinical trial testing AB-1009, Askbio’s investigational gene therapy for late-onset Pompe disease (LOPD), the company said. The trial, PROGRESS-GT LOPD (NCT07282847), primarily aims to assess the therapy’s safety in up to 12 adults with LOPD, aged 18 and…
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…
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…
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