Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for…
Articles by Marisa Wexler, MS
Maze Therapeutics announced its first three lead therapeutic candidates, including an investigational oral medication designed to treat Pompe disease.
A Phase 1/2 trial is recruiting adults in the U.S. who have late-onset Pompe disease to test a gene therapy,…
Miglustat — a component of AT-GAA, an investigational therapy for late-onset Pompe disease (PD) — enhances the activity of the…
At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment…
Treatment with AT-GAA, an investigational therapy for late-onset Pompe disease, led to improvements in measures of physical and lung…
Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like…
Measuring the urinary levels of a particular sugar molecule called tetraglucose (Glc4) could be useful for diagnosing Pompe disease,…