Patients with late-onset Pompe disease (LOPD) should be followed regularly and start on enzyme replacement therapy (ERT) if they develop symptoms, according to an analysis of available guidelines. The study, “Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using…
A database with mutations associated with Pompe disease has been extended and links different gene variants with their potential clinical severity to better predict outcomes. The study, “Extension of the Pompe mutation database by linking disease-associated variants to clinical severity,” appeared in the journal Human…
Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors called satellite cells (SCs), according to a study of mice. The study, “Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II),” was published in…
Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to differentiate between patients with adult-onset Pompe disease and those without the disease, and between patients with and without symptoms, a study reports. These findings suggest that monitoring PDGF-BB could help track disease progression and determine…
A woman with late-onset Pompe disease went through two successful pregnancies and births while continuing treatment with Lumizyme (alglucosidase alfa), a case study reports. The woman, however, chose not to breastfeed the infants. The study, “Two successfully completed pregnancies in adult onset Pompe disease,…
Audentes Therapeutics plans to submit an investigational new drug (IND) application for its Pompe disease gene therapy AT845 this year. In a recent update, Audentes, a biotech company, discussed its portfolio of investigational gene therapies for rare diseases. “2018 was an outstanding year for Audentes,” Matthew…
Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and enabled normal motor development and normalization of markers of muscle damage and disease progression in a boy with classic infantile-onset Pompe disease, according to a study. The study, “Early…
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published in the Journal of Cellular Physiology.
Get regular updates to your inbox.