Marisa Wexler, MS, senior science writer —

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…

A team led by researchers at Lysogene has developed a system of four “stages” to describe the severity of Sanfilippo syndrome type A using insights gleaned from interviews with parents of children with the disease. The results were described in the study, “Understanding disease symptoms and…

Communication challenges and mobility difficulties are among the most impactful symptoms for children with Sanfilippo syndrome, caregivers reported in a study. Results from the study, which was funded by the Cure Sanfilippo Foundation, could be used to inform outcome measures in clinical trials for potential treatments. The study,…

The Cure Sanfilippo Foundation is supporting a research project that aims to characterize fruit fly models of Sanfilippo syndrome type A, and to identify genes that affect disease development in these models. The two-year study is being led by Trudy Mackay, PhD, a professor of…

A clinical trial that had been testing the experimental gene therapy ABO-102 in people with advanced syndrome type A has ended after an analysis indicated the therapy was not significantly improving neurological or cognitive functioning. “All of us here at the Society and in the MPS community are deeply…

A coalition of patient advocacy organizations has published a Global Roadmap for Sanfilippo Syndrome Therapies, in an effort to accelerate research and develop effective therapies and care for families affected by Sanfilippo syndrome. “The Roadmap aims to capture the historical landscape of research and clinical trials, the gaps…

In a world-first, a team of scientists in Australia has developed a model of Sanfilippo syndrome type A in zebrafish. “By adding a zebrafish model to the toolbox for Sanfilippo research, we are one step closer to finding therapies for patients,” the Sanfilippo Children’s Foundation stated in a…

Music therapy may be beneficial for children with Sanfilippo syndrome, a small study in Spain illustrates. The study, “Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies,” was published in the Orphanet Journal of Rare Diseases. Music therapy has been…