Research

Patients with Pompe disease may develop structural changes in the basilar artery — an important artery that supplies oxygen to the brain — that may affect their risk for cerebrovascular complications, such as stroke. The study with that finding, “Decreased outlet angle of the superior cerebellar artery as indicator…

The National Institutes of Health (NIH) has awarded EpiVax with a Small Business Innovation Research (SBIR) grant of $324,980. The company is going to use the funding to further develop its Personalized Immunogenicity Assessment (PIMA) tool, designed to assess risk of enzyme replacement therapy failure in patients with…

Treatment with enzyme replacement therapy can help children with classic infantile Pompe disease reach adulthood. However, it fails to prevent the long-term effects of the disease in the brain and consequent   development of intellectual disabilities, a study shows. The study titled “Classic infantile Pompe patients…

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was published in the Journal of Cellular Physiology.

April 15 was International Pompe Day, and Amicus Therapeutics helped to raise awareness about the disease, as well as Fabry disease, by participating in several activities throughout the month, which also is designated Fabry Disease Awareness Month. Fabry disease is an inherited lysosomal storage disorder caused by deficiency of…

Interim results a from Phase 1/2 clinical trial support the therapeutic benefits of investigational therapy combination ATB200/AT2221 in patients with Pompe disease. Participants in the study showed improvements in motor and respiratory function. The therapy also resulted in a durable decrease of muscle damage biomarkers. These results will be presented…

Duke Health researchers are planning to launch a Phase 1 trial to test the safety of a new investigational gene therapy they developed to treat patients with Pompe disease. They are currently screening (NCT03285126) adults with late-onset Pompe disease to select eligible participants for the upcoming trial.

The biotech companies Shire and NanoMedSyn have launched a new research partnership to evaluate a potential treatment for lysosomal storage disorders including Pompe disease. NanoMedSyn has developed an enzyme replacement therapy using proprietary technology called AMFA that was shown in preclinical models to have promising biological activity.

Mitochondrial disorders are complex conditions for which few treatments are available. Now, using microscopic worms, researchers at The Children’s Hospital of Philadelphia (CHOP), are researching if existing human drugs aimed at improving metabolism and restore shortened lifespans, can open the opportunity for human clinical trials on innovative therapies for these…