News

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…

Sanfilippo Type B Patient May Be First in Saudi Arabia

A never-before-reported mutation in the gene NAGLU was found to cause Sanfilippo syndrome type B in an 8-year-old girl in Saudi Arabia. “To the best of our knowledge, this is the first report of Sanfilippo syndrome type B from Saudi Arabia,” researchers said. The case was described in the report,…

Add Your ‘Hands of Hope’ on World Sanfilippo Awareness Day

From joining the “Hands of Hope” challenge to adding a Facebook profile frame, supporters globally are poised to mark World Sanfilippo Awareness Day, observed each Nov. 16 to bring attention to the genetic disorder thought to affect one in 70,000 individuals. The awareness campaign targets the general public…

Parents, Caregivers Vital in Sanfilippo Disease Research: Study

According to parents of children with Sanfilippo syndrome, developmental delays, hyperactivity, sleep disturbances, hearing loss, and recurrent infections were the most common features of the condition. This study adds to the natural history of Sanfilippo syndrome and underscores the vital role parents and caregivers play in disease research, the…

Official to Propose European Action Plan for Rare Diseases

Later this month, the Czech government will host a conference where Deputy Minister of Health Jakub Dvořáček will present a call to action and proposal for a European Action Plan for Rare Diseases — a systemic framework for the  European Union to better care for people with rare diseases like…