enzyme replacement therapy

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…

Deferoxamine, a medication normally used to remove excess iron and aluminum from the body, can counteract the effects of a disease-causing genetic variant often found in people with late-onset Pompe disease (LOPD). These findings highlight the potential of drug repurposing for the development of new therapies for LOPD,…

Sanofi Genzyme‘s application requesting the approval of avalglucosidase alfa, an investigational enzyme replacement therapy (ERT) for Pompe disease, was accepted and place under priority review by the U.S. Food and Drug Administration (FDA). An agency decision on this next-generation ERT is expected on May 18, 2021, Sanofi…

Nystagmus, a condition in which the eyes move rapidly and uncontrollably, may be a feature of infantile-onset Pompe disease, a new case report suggests. The report, “Nystagmus in Infantile Pompe Disease: a new feature?” was published in the journal Acta Bio Medica. Pompe…

Patients with Pompe disease may have to undergo surgery requiring general anesthesia. Below is information about the disease, why patients may need surgery, and the potential risks of anesthesia. What is Pompe disease? Pompe disease is a rare genetic disease caused by a mutation in the GAA…

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…

Receiving a Pompe disease diagnosis for you or your child can come as quite a shock. But now that you know, you may want to start planning for the future. Types of Pompe disease There are three main types of Pompe disease, each with different ages of onset…

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…

Treatment with Myozyme (alglucosidase alfa, marketed as Lumizyme in the U.S.) improves walking ability and may stabilize respiratory function in adults with Pompe disease during the first three years of treatment, according to a recent study. However, factors such as aging may explain the loss of benefits observed at later stages. The…

While Pompe disease can affect the heart, respiratory system, and other functions, its chief symptom is muscle weakness. Exercise and physical therapy can help patients preserve mobility for as long as possible. Following are answers to some frequently asked questions about Pompe disease and exercise. How does…