News

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…

Abeona Therapeutics has started dosing the second group in its ongoing Phase 1/2 clinical trial testing ABO-101, treating the first patient with Sanfilippo syndrome type B with a high dose of the investigational gene therapy. This follows completion of the first part of the trial (NCT03315182), in…

Active tissue remodeling and treatment-resistant accumulation of toxic molecules are contributing factors in the development of persistent upper airway disease among patients with mucopolysaccharidosis (MPS), a study shows. The study, “Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme…