Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe disease is effectively delivered and leads to significant glycogen reduction at key tissues in mice, including the brain and spinal cord.
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RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…
Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in life. The study, “A genetic modifier of symptom onset in Pompe disease,” was published in EBioMedicine. Pompe disease is a rare genetic…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…
Pompe disease, an inherited lysosomal storage disorder, is much more common than once thought, say several experts speaking at the Muscular Dystrophy Association’s recent 2019 MDA Clinical and Scientific Conference in Orlando, Florida. For years, the incidence of Pompe was believed to be anywhere from 1 in…
Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.
Few people have heard of Pompe disease, and even fewer know anything about Joannes Cassianus Pompe — the Dutch pathologist who in 1931 characterized the rare disorder that carries his name, and who just 14 years later was killed by the Nazis for aiding the Allies during World War II.
Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 years earlier than patients from other areas of the world, a Pompe disease registry shows. The study, “Characteristics of Pompe disease in China: a report from the Pompe registry” was published in the journal…
New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making early recognition of these anomolies an important step to providing the best care for these patients, a study says. The cases were described by researchers from…
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…