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AGT-184 has been granted orphan drug designation for the treatment of Sanfilippo syndrome type A by the U.S. Food and Drug Aministration. Sanfilippo syndrome type A is caused by mutations in the gene that provides instructions to make the enzyme N-sulfoglucosamine sulfohydrolase (SGSH). This leads to the accumulation of a complex sugar molecule…

Long-term clinical course examination is important for diagnosing Sanfilippo syndrome type B, because early and accurate diagnosis can provide important information for family planning by those at risk of the disorder. The story with that finding, “Long-term clinical course of a patient with mucopolysaccharidosis type IIIB,” was published in…

Sanfilippo syndrome patients are typically considered at high risk when undergoing anesthesia because of the possibility of airway obstruction, but the use of two specific anesthetics, along with adequate airway positioning, appears to be an effective regimen for these patients, a study reports. The study, “…

An atypical case of Sanfilippo syndrome, in which symptoms were evident but urine tests proved negative, highlights the heterogeneous nature of this condition and the likelihood of an initial misdiagnosis. The study, “Delayed speech hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?,” was published in the Journal of…

A recent case report identified two siblings with Sanfilippo syndrome type C (MPSIIIC) who were also diagnosed with Klüver-Bucy syndrome, indicating a previously unknown association between the rare neurological disorder and this Sanfilippo type. The report, “Klüver-Bucy syndrome associated with a recessive variant…

An investigative gene therapy to treat patients with Sanfilippo syndrome type C was developed at the University of Manchester in England, and Phoenix Nest, a biotech based in the U.S., has signed a licensing agreement to take the therapy to the clinical trial stage. Sanfilippo syndrome type…

A rare and unexpected case of Sanfilippo type IIIA was reported in a 13-month-old child following the observance of high levels of the enzyme creatinine kinase in the child’s blood. The case report, “Mucopolysaccharidosis IIIA presenting with hyperckemia in a child,” was published in the journal Acta Neurologica Belgica.

Sanfilippo syndrome type A leads to the accumulation of other large sugar molecules besides the characteristic heparan sulfate in several organs, according to a mouse study from Italy. The study, “Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase…

Treating a mouse model of Sanfilippo with a small molecule, called trehalose, may be a viable therapeutic approach for people with this syndrome, researchers suggest. Their study, “Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency” was published in the journal Autophagy. Autophagy…

A common sugar often used as a food additive was seen to ease inflammation in the brain and retina, and extend the life of Sanfilippo disease IIIB (mucopolysaccharidosis IIIB) mice in a preclinical study. The study, “Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal…