Despite treatment for years with Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — people with late-onset Pompe disease (LOPD) still develop airway abnormalities and experience reduced lung function, a small Taiwanese retrospective study shows. While none of the five patients in the study required a ventilator…
late-onset Pompe disease
Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy, has been approved by Health Canada for people with late-onset Pompe disease ages 6 months and older. “The Health Canada approval of Nexviazyme is an important milestone for Canadian Pompe patients and may represent a new standard of care,” Mark…
Adults with late-onset Pompe disease in the U.K reported a long and distressing diagnostic process, with most patients calling in interviews for a reduced time to diagnosis, a shorter wait for a specialist appointment, and an earlier treatment start, a study found. At diagnosis — which often came only…
Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other rare diseases, a national survey in China has found. In the study, however, stronger social support — in the form of social interaction — was linked to better quality of…
A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.
Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…
The type of genetic mutation carried by a Pompe disease patient appears to predict whether the disease is infantile- or late-onset, according to a study. However, newly diagnosed patients should still undergo complete genetic, cardiac, and neurological tests, scientists stated. The study, “Phenotypic implications of pathogenic…
Strength training exercises did not aggravate muscle damage in people with late-onset Pompe disease (LOPD), although patients with significant changes in certain markers of muscle damage should be monitored while determining their best training regime. This result comes from the study “Muscle damage in response to a…
AT-GAA, an investigational therapy by Amicus Therapeutics for late-onset Pompe disease, will be available to select patients in the U.K. through an early access program before its potential regulatory approval. Eligible patients are adults who have received the enzyme replacement therapy (ERT) alglucosidase alfa — the…
Amicus Therapeutics anticipates completing a rolling application by mid-year to seek approval of its investigational therapy AT-GAA for late-onset Pompe disease in the U.S. The announcement follows a pre-filing meeting with the U.S. Food and Drug Administration (FDA). The rolling biologics license application (BLA), initiated in…
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