News

May 22, 2019May 22, 2019

New Genetic Variant May Help Explain Variability of Symptom Onset, Study Says

News

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 ... Read more

May 16, 2019May 16, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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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 ... Read more

May 8, 2019May 8, 2019

Pompe Disease More Common Than Previously Believed, Experts Say

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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 ... Read more

May 1, 2019

PALS Uplifts the Spirits of Rare-Disease Patients by Offering Free Flights

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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 ... Read more

April 24, 2019April 24, 2019

Fascination With Pompe Led Miami Neurologist to Netherlands Years Ago

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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 ... Read more

April 17, 2019April 17, 2019

Chinese Pompe Patients Show Symptoms a Decade Earlier Than Others, Review Finds

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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. ... Read more

April 10, 2019April 10, 2019

3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease

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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 ... Read more

April 3, 2019April 3, 2019

Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests

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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 ... Read more

March 27, 2019March 27, 2019

Amicus Therapeutics Gets Two U.S. Patents as Part of AT-GAA Therapy’s Development

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Amicus Therapeutics received two U.S. patents for ATB200, a unique recombinant (lab-made) human acid alpha-glucosidase (rhGAA) enzyme, and the biologic component of the company’s investigational Pompe disease therapy AT-GAA. One ... Read more

March 20, 2019March 20, 2019

Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests

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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 ... Read more