Marta Figueiredo, PhD, science writer —

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…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Newly developed nerve cells derived from patients could be used as a model to study neurological involvement in Pompe disease and test potential therapies, a study reports. Notably, data from these models suggested that a combination of two molecules, which was previously shown to have beneficial effects in models of…

Patient-reported outcomes — particularly those related to general physical and arm function — effectively reflect disease severity in people with late-onset Pompe disease as assessed with validated clinical measures, a study suggests. Selected outcomes, part of the Patient-Reported Outcomes Measurement Information System (PROMIS), were found to represent the…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

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,…

The European Medicines Agency agreed to begin reviewing Sanofi Genzyme’s application requesting the approval of avalglucosidase alfa, its investigational enzyme replacement therapy (ERT) for people with Pompe disease. According to a press release, a regulatory decision is expected in the second half of 2021, and if…

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…

A moss-derived type of enzyme replacement therapy (ERT) for Pompe disease may be more effective than the currently approved ERT in targeting muscle cells, according to a small study. Since the study focused on muscle cells grown in the lab, further research in a whole organism, such as a…

Sanofi Genzyme’s next-generation enzyme replacement therapy (ERT), avalglucosidase alfa, safely halts disease progression in people with Pompe disease, according to interim data from two Phase 2 clinical trials. The trial’s results were the focus of oral and poster presentations at the 16th Annual WORLDSymposium, held…