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…
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A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…
The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…
Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…
Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…
The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…
Electrical impedance myography (EIM), a non-invasive and painless muscle test that can be conducted at home, is associated significantly with functional measures in adults with late-onset Pompe disease (LOPD), according to a small study. Notably, similar EIM results were obtained when the test was performed by patients at home using…
The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…
Newly approved Nexviazyme (avalglucosidase alfa) is a next-generation, alternative enzyme replacement therapy for late-onset Pompe disease patients starting at age 1. In clinical trials that supported the Aug. 6 approval by the U.S. Food and Drug Administration (FDA), meaningful improvements in respiratory muscle strength and mobility were evident in patients given…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…