A committee of the European Medicines Agency (EMA) has recommended the approval of avalglucosidase alfa, a next-generation enzyme replacement therapy (ERT) developed by Sanofi Genzyme, for people with Pompe disease. That recommendation, by the Committee for Medicinal Products for Human Use (CHMP), paves the way for marketing authorization to be granted by…
News
AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…
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…
Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
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…
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
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…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
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…
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