Alice Melao,  —

Four cases of infantile-onset Pompe disease recently reported in Australia help shed light on some of the unique challenges care providers face in diagnosing and managing this genetic disease. Early recognition of the disease’s signs and prompt initiation of enzyme replacement therapy (ERT) are critical to ensuring the best patient outcome…

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…

Amicus Therapeutics is recruiting participants for the fourth group of its ongoing Phase 1/2 clinical trial evaluating the company’s investigative combination therapy AT-GAA. The trial (NCT02675465), called ATB200-02, will assess the safety, tolerability, and efficacy of AT-GAA in different groups of Pompe disease patients. The trial has treated…

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.