Marisa Wexler, MS, senior science writer —

Most children with Sanfilippo syndrome type A who received the one-time gene therapy UX111 early in life in a clinical trial continue to show cognitive development gains beyond the age where patients usually start regressing. These improvements were associated with reductions in heparan sulfate (HS) in the children’s cerebrospinal fluid…

Standardized tests that measure memory, motor function, and well-being can be used to track the progression of neurological dysfunction in a mouse model of Sanfilippo syndrome type A, a study shows. “Our data show that the water cross maze, hind-limb gait, nest building, and burrowing are useful assessments to…

JCR Pharmaceuticals has won permission from officials in Germany to start a Phase 1/2 clinical trial of JR-441, an experimental therapy designed to deliver to the brain a working version of the enzyme that’s missing in Sanfilippo syndrome type A. The Paul-Ehrlich Institute (PEI), an agency of the…

Researchers are calling for individualized clinical trials that would test the effects of anti-inflammatory therapies for Sanfilippo syndrome and related conditions. A team of scientists from Europe has published a paper that outlines how such trials can be conducted and offered recommendations for specific therapies to test in specific…

Light-sensing cells in the eyes become damaged and die in Sanfilippo syndrome type C before the onset of behavioral symptoms, a new study indicates. Issues related to vision “may be the first truly distinctive symptom” of Sanfilippo for these patients, which suggests “better disease awareness among ophthalmologists could play…

The Lysosomal and Rare Disorders Research and Treatment Center is recruiting people with Sanfilippo syndrome for an observational clinical trial. The study (NCT05705674) seeks to enroll six participants, ages 5 and older. It’s open to patients with any of the four four types of Sanfilippo.

Treatment with sugary molecules called iminosugars can reduce the toxic buildup of heparan sulfate in cellular models of Sanfilippo syndrome, a new study reports. The study, “N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome,” was published in the Journal of Medicinal Chemistry. Sanfilippo syndrome is…

Treatment with resveratrol, a plant-derived compound that activates a cell cleansing process called autophagy, reduced the toxic buildup of heparan sulfate and normalized behavior in a mouse model of Sanfilippo syndrome. “Resveratrol normalized urinary [heparan sulfate] levels and attenuated abnormal behaviors in [Sanfilippo B] model mice, supporting further studies…

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…