Joana Carvalho, PhD,  managing science editor—

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 Pompe disease,” was published in the journal Neurological Sciences. LOPD is a genetic disorder…

Amicus Therapeutics has completed and exceeded patient enrollment for its Phase 3 PROPEL trial of AT-GAA, its investigational chaperone therapy for the treatment of Pompe disease. The company also remains on track to file a biologics license application…

Amicus Therapeutics announced that it has entered into a manufacturing agreement with Paragon Bioservices to drive the development of technologies, including gene therapies, now in preclinical testing for the treatment of rare genetic disorders like Pompe disease. These include a series of lysosomal disorder programs, jointly developed by Paragon (now…

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…

Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. The study, “Health utilities and parental quality of life effects for three rare conditions tested in newborns,” was published in the Journal of…