Lindsey Shapiro, PhD,  science writer—

A hematopoietic stem and progenitor cell (HSPC) transplant eased several disease symptoms, including motor problems and enlarged organs, in a new mouse model of Sanfilippo syndrome type C, according to a study. HSPC transplant provides blood cell precursors from a healthy donor, which are then able to develop into…

Ultragenyx Pharmaceutical has submitted a biologics license application (BLA) to the U.S. Food and Drug Administration (FDA) seeking accelerated approval of its gene therapy UX111 for Sanfilippo syndrome type A. If approved, UX111 would become the first therapy to be cleared in the U.S. for Sanfilippo, a…

The release of extracellular vesicles (EVs) from microglia may play a key role in driving neurodegeneration in Sanfilippo syndrome. EVs are tiny particles that carry a variety of cargo, such as proteins and DNA, between cells to facilitate cell-to-cell communication. Microglia are a class of immune cells in the…

A number of proteins that accumulate to toxic levels in other neurodegenerative diseases also build up in cells derived from patients with all types of Sanfilippo syndrome, but treating the cells with a molecule to reduce heparan sulfate, which accumulates in Sanfilippo, also caused the other protein levels to…

A carbohydrate molecule derived from marine bacteria was able to reduce inflammation in the brain, reverse metabolic dysfunction, and preserve brain tissue integrity in a mouse model of Sanfilippo syndrome type A, according to a new study. These benefits corresponded to an easing of motor deficits in the mouse…

Tralesinidase alfa, an experimental enzyme replacement therapy for people with Sanfilippo syndrome type B, was safe and showed good brain distribution in non-human primates, specifically cynomolgus monkeys, a new study found. The treatment was equally well tolerated regardless of dose, duration of the infusion, or formulation. According to…

An experimental enzyme replacement therapy (ERT) called tralesinidase alfa (AX 250) was found in a clinical trial to safely reduce liver size, slow brain shrinkage, and demonstrate the ability to stabilize cognitive function among children with Sanfilippo syndrome type B. Tralesinidase alfa also successfully lowered the accumulation of…

Children with Sanfilippo syndrome have impaired growth compared with the general population, but these deviations are milder than those observed with other types of mucopolysaccharidoses (MPS), a study found. The study, which spanned more than 30 years, found that children with MPS were significantly longer than healthy children at…

The antidepressant fluoxetine was able to improve cognition and reduce the buildup of toxic molecules in a mouse model of Sanfilippo syndrome type A, a group of researchers in Italy has found. “We repurposed fluoxetine for potential therapeutics to treat human MPS-IIIA [Sanfilippo type A] disease,” the researchers wrote.

Researchers from the Canadian Glycomics Network (GlycoNet) are developing a new combination therapy that’s showing promising preclinical results for Sanfilippo syndrome. The therapy is designed to remove patients’ faulty cells, correct them, and return them back to the body, where they will replicate to produce new healthy cells. “We…