News

Iminosugars may help advance treatments for Sanfilippo: Cell study

Treatment with sugary molecules called iminosugars can reduce the toxic buildup of heparan sulfate in cellular models of Sanfilippo syndrome, a new study reports. The study, “N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome,” was published in the Journal of Medicinal Chemistry. Sanfilippo syndrome is…

Resveratrol Prevents Toxic Buildup in Cells of Sanfilippo Mouse Model

Treatment with resveratrol, a plant-derived compound that activates a cell cleansing process called autophagy, reduced the toxic buildup of heparan sulfate and normalized behavior in a mouse model of Sanfilippo syndrome. “Resveratrol normalized urinary [heparan sulfate] levels and attenuated abnormal behaviors in [Sanfilippo B] model mice, supporting further studies…

Increased Disease Severity Found With Age in Sanfilippo Youth

Neurological, behavioral, and MRI examinations of a group of children and adolescents with Sanfilippo syndrome in Brazil showed increased disease severity with age that coincided with progressive brain involvement, according to a new study. Changes in all areas increased in prevalence as the children grew, the researchers noted in…

Enzyme Replacement Therapy for Sanfilippo A Shows Promise

A novel enzyme replacement therapy developed by BioMarin Pharmaceutical for Sanfilippo syndrome type A showed promising effects in a mouse model of the disease, a study showed. Researchers were also able to identify a previously unknown receptor protein that lets the enzyme enter cells. The study, “…

Experts Publish Consensus Guidelines for Sanfilippo Care

An international group of experts has published a set of consensus guidelines outlining how best to provide medical care for people with Sanfilippo syndrome. “The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as…