Author Archives: Marisa Wexler MS

The European Medicines Agency has accepted applications from Amicus Therapeutics seeking approval of AT-GAA, a two-component investigational therapy for the treatment of Pompe disease. “The acceptance of these filings is an important step forward for people living with Pompe disease and their families in Europe. Patients need new…

Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy, has been approved by Health Canada for people with late-onset Pompe disease ages 6 months and older. “The Health Canada approval of Nexviazyme is an important milestone for Canadian Pompe patients and may represent a new standard of care,” Mark…

Training with continuous positive airway pressure therapy, known as CPAP, may help to normalize speech abnormalities in children with Pompe disease, a small pilot study shows. Certain outcomes, including the speech intelligibility score (SIS), “were significantly improved” over the course of the six-month study, but as two of the…

The U.S. Food and Drug Administration (FDA) is reviewing applications from Amicus Therapeutics asking for the approval of AT-GAA as a treatment for late-onset Pompe disease (LOPD). Amicus initiated a rolling application for AT-GAA late last year, which allowed the company to submit portions of its application as…

Starting treatment with enzyme-replacement therapy (ERT) in the first days of life appears to lessen the risk of hearing impairments in children with infantile-onset Pompe disease (IOPD), researchers report. “Our study may enhance awareness of early intervention before hearing-related morbidities can develop in patients with IOPD,” its researchers…

The U.S. Food and Drug Administration (FDA) has approved Nexviazyme (avalglucosidase alfa), a next-generation enzyme replacement therapy for late-onset Pompe disease. The medication, administered by infusion into the bloodstream every two weeks, is approved for patients 1 year or older and is expected to be available in the…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

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…

A Phase 1/2 trial is recruiting adults in the U.S. who have late-onset Pompe disease to test a gene therapy, AT845, being developed by Audentes Therapeutics, according to an update from the Muscular Dystrophy Association. The company-sponsored FORTIS trial (NCT04174105) will be evaluating the safety…

Miglustat — a component of AT-GAA, an investigational therapy for late-onset Pompe disease (PD) — enhances the activity of the other component in AT-GAA, cipaglucosidase alfa, researchers report. These findings were presented at the 2021 MDA Virtual Clinical & Scientific Conference, in the poster “Enhancing Delivery…