Marisa Wexler, MS, senior science writer —

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…

Treatment with SOBI003, a now-discontinued experimental therapy for Sanfilippo syndrome type A, was generally well-tolerated and reduced heparan sulfate levels in a clinical trial. “These are very important findings that could inform future trials and therapeutic development programs targeted at reduction of heparan sulfate. They also provide important information…

Levels of a protein called cystatin C are elevated in the lungs of people with Sanfilippo syndrome and related diseases, and higher levels of it are associated with worse respiratory function in these patients, a new study reports. The findings also show that heparan sulfate, the molecule that accumulates…

Sanfilippo syndrome affected the hearts of two sisters with the rare genetic disorder, without causing any of its more typical neurological symptoms, according to a case report. The case highlights the importance of recognizing — and treating — such rare non-neuronal manifestations of the disease, the researchers said. “Early…