treatment

Eating and drinking or nursing can pose a problem for patients with Pompe disease. These patients may require feeding tubes to ensure safety and proper nutrition. Here is some information about feeding problems in Pompe disease and options for different feeding tubes. What is Pompe disease? Pompe disease is a…

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…

People with Pompe disease will likely need, at some point, to undergo medical procedures that require anesthesia. Here is information about the different forms of anesthesia, how Pompe disease may complicate its use, and precautions doctors should take. What is Pompe disease? Pompe is a rare genetic disease caused…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

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,…

Pompe disease is characterized by progressive muscle weakness and disability. A number of adaptive devices are available to maintain patients’ quality of life. What is Pompe disease? Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. This gene contains the instructions necessary…

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…

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…

Late-onset Pompe disease can occur during a child’s largest phase of growth and development. This can have a major impact on how well the body develops, including the occurrence of scoliosis. What is scoliosis? Scoliosis is a sideways curve in the spine, and is often related to neuromuscular…

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Raising awareness about this rare genetic disease could mean more patients would benefit from earlier diagnosis and treatment. Here are some facts about Pompe disease, and efforts to make it…