News

Gene therapy, using an improved version of a virus as a delivery vehicle, greatly improved muscle and respiratory function in a mouse model of Pompe disease. The study, “Systemic delivery of AAVB1-GAA clears glycogen and prolongs survival in a mouse model of Pompe disease,” was published in…

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…

A neuron-specific gene therapy treatment improved motor coordination in a mouse model of Pompe disease and highlights the role that neuronal dysfunction plays in this disease. The study, “A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice,” was published in the journal Molecular…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

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…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

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…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

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…