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A newly identified mutation was found in a boy from Kosovo with Sanfilippo syndrome type B alongside a well-known disease-causing mutation, a recent study reported. Because this mutation had never been reported, the researchers said more research is needed to determine its frequency in the Balkan region of southern…
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 investigational, brain-penetrating enzyme replacement therapy DNL126 was found to correct neurological signs of Sanfilippo syndrome type A in a mouse model, according to its developer, Denali Therapeutics. Now, the biopharmaceutical company plans to seek U.S. Food and Drug Administration permission — via an investigational new drug application…
Four out of the five children with Sanfilippo syndrome type A in a Phase 1/2 clinical trial have continued to gain cognitive skills — which in three were similar to healthy children — after being given OTL-201, an experimental gene therapy being developed by Orchard Therapeutics. The children…
Researchers identified 11 new candidate metabolite biomarkers in the urine of people with Sanfilippo syndrome, a study reported. Metabolomics, or examining global changes in metabolites in metabolic disorders such as Sanfilippo syndrome, may shed light on underlying disease mechanisms and provide a source of noninvasive biomarkers to support diagnosis,…
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…
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