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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, “…

Stem cell gene therapy in children with Sanfilippo syndrome type A was well-tolerated and generated high levels of SGSH, the enzyme missing in people with the condition, according to a Phase 1/2 clinical trial. Elevated SGSH enzyme activity resulted in a rapid and significant drop in urinary and blood…

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…

Children with Sanfilippo syndrome type A who were treated with the investigational gene therapy LYS-SAF302 before 2.5 years of age showed improvements in cognitive development compared to what is expected without treatment, according to top-line data from the Phase 2/3 AAVance clinical trial. However, the trial did not meet its…

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,…

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…

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…

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…

When assessing bone density in people with conditions like Sanfilippo syndrome, it is necessary to account for impaired growth, which is common in these patients, a new study highlights. The results also indicate many people with Sanfilippo and related conditions have low levels of vitamin D, showing a need…

Children with Sanfilippo syndrome have altered growth patterns — starting at birth, when infants with the genetic disorder are usually longer than the average newborn in the general population, a new study found. But while the results showed overall variations in the growth dynamics for Sanfilippo children, researchers said…