First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most ... Read more
The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. ... Read more
Ultrasound could help evaluate diaphragm and respiratory function in people with late-onset Pompe disease (LOPD), a study suggests. The study, “Ultrasound assessment of diaphragm function in patients with late-onset ... Read more
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see ... Read more
A small molecule called 3-BrPA was able to lower levels of glycogen — a complex sugar that builds up to toxic levels in Pompe disease — and ameliorate muscle ... Read more
The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic ... Read more
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still ... Read more
When used in combination with enzyme replacement therapy, albuterol improves lung and motor function in patients with late-onset Pompe disease (LOPD), a Phase 1/2 trial showed. Trial findings were ... Read more
In recognition of Rare Disease Day Feb. 29, BioNews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the ... Read more
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, ... Read more
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