News

National MPS Society’s Maritime Gala on tap for May 13

The National MPS Society will host its Maritime Gala May 13 on the San Francisco Bay in Tiburon, California, at the historic Corinthian Yacht Club to raise funds for its family support and research programs. The event also observes International MPS Awareness Day, observed annually on May…

New Sanfilippo type B mutation discovered in the Balkans

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…

Vision problems may be earliest symptom of Sanfilippo C: Study

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…

Enzyme replacement therapy found effective in Sanfilippo type A mice

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…

Metabolites in patients’ urine may be markers of disease, ERT response

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,…