Research

Whole-body MRI found that a muscle in the shin is affected early on in children with either infantile or late-onset Pompe disease, a study shows. Such findings suggest earlier deterioration of this muscle, called tibialis anterior, in patients with more severe forms…

Bayer reached an agreement to acquire Asklepios BioPharmaceutical (AskBio), including its clinical program of ACT-101, an experimental one-time gene therapy for late-onset Pompe disease. AskBio, which will remain an independent entity, has a portfolio that comprises early and clinical stage gene therapies to treat neuromuscular,…

Scientists have created a new mouse model of Pompe disease that displays the severe respiratory impairments experienced by many patients but were never observed in other animal models of the disorder. Using this more stringent model, investigators also demonstrated the therapeutic potential of a new form of gene…

Children with classic infantile Pompe disease treated for years with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S) exhibit muscle weakness in their lower legs, feet, and hands in addition to the proximal muscle weakness that typifies late-onset Pompe,…

Fertility in women is not affected by late-onset Pompe disease (LOPD), but pregnancy may initiate or worsen symptoms, a small study found.  The study, “Pregnancy Outcomes in Late Onset Pompe Disease,” was published in the journal…

Adding a preventive short-course immunomodulatory regimen — rituximab, methotrexate, and intravenous immunoglobulins (IVIG) — to enzyme replacement therapy (ERT) safely provides long-term protection from antibodies that can block ERT’s effectiveness in children with classic infantile Pompe disease, a study found. These findings highlight that the benefits…

Children receiving enzyme replacement therapy (ERT) for Pompe disease often experience immune reactions to treatment, presenting as rashes or severe allergy, sometimes after several successful infusions, a case series shows. While these hypersensitivity reactions can be avoided successfully with anti-allergy medications and longer infusion times in some patients, others…

Amicus Therapeutics remains on track to announce top-line data from PROPEL — a Phase 3 trial of AT-GAA for the treatment of late-onset Pompe disease — in the first half of 2021, and plans to seek regulatory clearance to start clinical studies of a gene therapy for…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Spirometry is a common medical test that you can take at your local hospital or clinic to evaluate how well your lungs are working. In late-onset Pompe disease, doctors can use spirometry to track disease progression. What is late-onset Pompe disease? Pompe disease is a rare,…