Disease progression

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…

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,…

Pompe disease is a rare disease in which glycogen, a complex sugar molecule, builds up in cells and tissues. This buildup interferes with function, especially in muscles. Changes to diet and feeding methods may help alleviate or slow the progression of some disease symptoms. One dietary…

Pompe disease is a multisystem disorder that affects about one in 40,000 people in the U.S. Because it’s rare, many physicians are unfamiliar with the disease and its treatment. If you or your child has Pompe disease, working with your primary doctor to develop and maintain a…

If your child has Pompe disease, you may consider enrolling them in the ongoing Pompe disease registry.  Among other things, the information that researchers collect through this registry is likely to help them better understand and treat inherited metabolic disorders like…

People with late-onset Pompe disease (LOPD) show significant increases in the amount of muscle replaced by fat while on treatment, which is linked to reduced muscle strength and motor function, according to a new study.  These findings support the use of muscle imaging to assess…

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…

People with late-onset Pompe disease (LOPD) have lower dynamic diaphragm function and altered endurance and strength during inhalation, but they show some compensatory mechanisms to preserve air volume, according to a recent study. These findings, which were achieved using dynamic — rather than the standard, static — lung function…

Patients with Pompe disease also may exhibit motor neuronopathy (motor and nerve deficits due to neuron degeneration) in addition to the classical myopathy (muscle disease) features, a case study suggests. Researchers suggest that future studies also should focus on therapies that target the central nervous system, and that…

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in LOPD patients can worsen disability and needs special attention and care, such as physiotherapy. The report with those findings, “…