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,…

A Phase 2/3 trial of the Sanfilippo syndrome type A gene therapy candidate LYS-SAF302 has dosed its first patient in Europe. Called AAVance, the open-label trial (NCT03612869) is assessing the safety and efficacy of a one-time delivery of LYS-SAF302. The team intends to recruit a total of 20…

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…

Using different cellular models of Sanfilippo syndrome type B, researchers have found that exposure time and dose significantly affect the cellular uptake of BMN 250, an investigational enzyme replacement therapy, and the clearance of sugar molecules called heparan sulfate. The study, “Differential uptake of NAGLU-IGF2 and…

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have enhanced their gene therapy collaboration to pursue treatments for lysosomal disorders such as Sanfilippo syndrome. The partnership has been expanded to include a next-generation program in Sanfilippo type A and B.

Increased levels of certain gangliosides, or sugar-fat molecules, in the cerebrospinal fluid of people with Sanfilippo syndrome may be useful biomarkers of disease burden, a study suggests. While this measurement looks promising, investigators stress that more research is needed to confirm its clinical utility.  Monitoring gangliosides in patients…

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…

Growth charts of Sanfilippo patients, created in a German study, can help doctors predict the developmental progress of children affected by this rare disease, and counsel parents on what to expect, the researchers said. The charts, which show growth patterns of people with Sanfilippo syndrome from birth to early…

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…