Marisa Wexler, MS, senior science writer —

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…

Any child who experiences developmental delay or intellectual disability by age 18 should undergo genetic sequencing as a first- or second-line diagnostic test, according to new guidelines published by the American College of Medical Genetics and Genomics (ACMG). Such genetic sequencing also should be done for infants with congenital anomalies…

A clinical trial extension study involving 12 children with Sanfilippo syndrome type A was terminated early, after efficacy analyses found that the investigational enzyme replacement therapy it was testing failed to show evidence that it could slow the patients’ progressive cognitive or neurological impairment. After a median of 264.4 weeks…

M041, an enzyme replacement therapy M6P Therapeutics (M6PT) is developing for Sanfilippo syndrome type B, can effectively be transported into cells, proof-of-concept preclinical data show. With data showing such “increased efficiency … M041 is a potential novel recombinant enzyme therapy for Sanfilippo B syndrome,” M6PT said in a…

Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is not yet known, its researchers said. The study, “Clinical and genetic features of 13 patients with…

Eye Movement Desensitization and Reprocessing (EMDR) can help to ease symptoms of post-traumatic stress disorder (PTSD) in parents of children with Sanfilippo syndrome, a case study suggests. The study, “Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization…

Treatment with ABO-102, an investigational gene therapy being developed by Abeona Therapeutics, normalized development in children with Sanfilippo syndrome type A, according to new data from a clinical trial. The data indicate that the gene therapy is especially effective when given early in life, before the disease has…