News

Spurring conversations on World Sanfilippo Awareness Day

A primary goal of this year’s World Sanfilippo Awareness Day, observed annually on Nov. 16, is to get people talking about Sanfilippo syndrome, a rare disorder thought to affect 1 in 70,000 people. “World Sanfilippo Awareness Day is about spreading awareness and sparking conversations globally about Sanfilippo syndrome,…

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…