Marisa Wexler, MS, senior science writer —

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, “…

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,…

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…

Tralesinidase alfa (AX 250), an experimental enzyme replacement therapy for Sanfilippo syndrome type B that’s now in clinical trials, was found to improve cognition and reduce brain shrinkage in a dog model of the disease, a new study reports. “The data presented here support the current human clinical…

A short, intense course of eye movement desensitization reprocessing therapy, called EMDR, can help to lessen symptoms of trauma and stress in parents of children with Sanfilippo syndrome, according to a small clinical trial. “Based on the large effect sizes and persistence of the effects found for EMDR in…

The case of two siblings with Sanfilippo syndrome type B who had the same disease-causing mutations but showed dramatically different developmental trajectories was described in a recent report. Genetic analyses revealed an additional gene mutation in the younger child — one causing another rare disease characterized by developmental delays…