treatment

Walking distance improved in late-onset Pompe disease patients on enzyme replacement therapy (ERT), while their lung function and muscle strength remained unchanged, a meta-analysis has found. More studies are, however, needed to confirm these findings and “to obtain more…

Although enzyme replacement infusions were initially very frightening, they have become a part of our routine. My son, Cayden, requires this lifesaving medication due to his infantile Pompe disease. It works by replacing the enzyme that his body cannot make on its own.  For the first…

Amicus Therapeutics anticipates completing a rolling application by mid-year to seek approval of its investigational therapy AT-GAA for late-onset Pompe disease in the U.S. The announcement follows a pre-filing meeting with the U.S. Food and Drug Administration (FDA). The rolling biologics license application (BLA), initiated in…

The U.S. Food and Drug Administration (FDA) has extended by three months its review of Sanofi Genzyme‘s application seeking approval of avalglucosidase alfa, its next-generation enzyme replacement therapy (ERT) for Pompe disease. The date for an agency decision regarding approval, previously set for May 18, is now Aug. 18. “Sanofi…

Some doctors specialize in one field of medicine, which requires them to go through even more education and training. My son, Cayden, sees many different specialists, including a metabolism specialist, pulmonologist, cardiologist, gastroenterologist, nutritionist, otolaryngologist (ENT), and orthopedist.  Each of these specialists serves a…

Administration of 3,4-diaminopyridine phosphate (3,4-DAPP) eased problems at the neuromuscular junction (NMJ) — sites of nerve-muscle communication — in a zebrafish model of Pompe disease. Results suggest that the medication, also known as amifampridine and approved under the brand names …

The first patient has been dosed in the FORTIS Phase 1/2 trial of AT845, a single-dose gene therapy for adults with late-onset Pompe disease (LOPD). AT845 is designed to deliver a healthy copy of the gene that encodes the enzyme acid alpha-glucosidase (GAA) directly to…

Maze Therapeutics announced its first three lead therapeutic candidates, including an investigational oral medication designed to treat Pompe disease. Pompe disease is caused by genetic mutations that make the body unable to break down glycogen, a complex sugar molecule. As a result, glycogen builds to toxic levels in…

At a recent webinar, experts cautioned that it could be dangerous for people with Pompe disease to stop treatment due to the COVID-19 pandemic. The disease that would come to be called COVID-19 was first reported in the U.S. more than a year ago. As it spread across…

In the first years of treatment, Myozyme (alglucosidase alfa) — marketed in the U.S. as Lumizyme — can effectively increase physical endurance, and improve lung function and muscle strength in adults with late-onset Pompe disease (LOPD), a real-world study found. Yet, despite this treatment, patients’ clinical outcomes, particularly lung…