News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness  of gene therapy for Pompe disease. Studies in mice demonstrated that administering salmeterol as an add-on treatment to gene therapy can significantly reduce the amount…

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have expanded their research collaboration to develop new gene therapies for Pompe disease as well as other rare genetic diseases, the company announced. Encouraged by the success of an ongoing collaboration,…

Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe disease is effectively delivered and leads to significant glycogen reduction at key tissues in mice, including the brain and spinal cord.

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in life. The study, “A genetic modifier of symptom onset in Pompe disease,” was published in EBioMedicine. Pompe disease is a rare genetic…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

Pompe disease, an inherited lysosomal storage disorder, is much more common than once thought, say several experts speaking at the Muscular Dystrophy Association’s recent 2019 MDA Clinical and Scientific Conference in Orlando, Florida. For years, the incidence of Pompe was believed to be anywhere from 1 in…