News

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…

In an effort to raise public awareness and increase understanding of Pompe disease, the 8th Annual International Pompe Day will be celebrated on April 15. This year’s theme is “Pompe Around the World,” the International Pompe Association (IPA) announced. The event’s slogan is “Together We Are Strong.” “The…

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking.  But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…

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…

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…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

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…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…