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…
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…
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…
Neurological, behavioral, and MRI examinations of a group of children and adolescents with Sanfilippo syndrome in Brazil showed increased disease severity with age that coincided with progressive brain involvement, according to a new study. Changes in all areas increased in prevalence as the children grew, the researchers noted in…
Brain implantation of genetically corrected stem cells restored NAGLU enzyme activity and reduced signs of Sanfilippo syndrome type B in mice, a study demonstrates. These findings may support further clinical studies using the approach in people diagnosed with Sanfilippo B. In addition, researchers revealed novel features of the condition…
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, “…
Stem cell gene therapy in children with Sanfilippo syndrome type A was well-tolerated and generated high levels of SGSH, the enzyme missing in people with the condition, according to a Phase 1/2 clinical trial. Elevated SGSH enzyme activity resulted in a rapid and significant drop in urinary and blood…
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…
Children with Sanfilippo syndrome type A who were treated with the investigational gene therapy LYS-SAF302 before 2.5 years of age showed improvements in cognitive development compared to what is expected without treatment, according to top-line data from the Phase 2/3 AAVance clinical trial. However, the trial did not meet its…
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