Opfolda (miglustat) is a medicine taken with another medicine for certain people with late-onset Pompe disease. Pompe disease is a rare genetic disorder that is caused by an abnormal gene for a ...

River Pugh, a three-year-old boy from Indiana, is fighting to survive Pompe Disease, a rare genetic disease that causes ...

Twenty states must start screening newborns for Pompe disease, a rare and often fatal genetic disorder that weakens the heart and muscles, says UB researcher Mary Riedy, a clinical pharmacist in rare ...

(NEW YORK) — President Donald Trump’s first address to a joint session of Congress happened to fall on Rare Disease Day — a fact he highlighted by recognizing one of his invited guests, Megan Crowley, ...

Mental Health for Rare to present research at WORLDSymposium 2025 showing Pompe patients face 2.5x higher mental health risks, urging better access to support. This research underscores the urgent ...

Sanofi has two therapies for the rare disorder Pompe disease, one of which is a relatively recent entry into the market. But a drug candidate from Maze Therapeutics would offer advantages over both ...

Please provide your email address to receive an email when new articles are posted on . The FDA has approved a two-part combination therapy in 65 mg capsules to treat adults with late-onset Pompe ...

The film “Extraordinary Measures,” which opens in theaters next week, is the story of a father searching for a life-saving drug for his son who suffers from Pompe disease, a rare genetic disorder. The ...

Rare diseases (RDs) are defined as those that occur in one for every 2,000 people in the European Union and less than 200,000 people in the United States each year. To date, about 7,000 RDs have been ...

Pompe disease is caused by a deficiency in the lysosomal enzyme acid α-glucosidase (GAA) that leads to accumulation of glycogen in the lysosomes, mainly seen in skeletal and cardiac muscles.