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Most children with Sanfilippo syndrome type A who received the one-time gene therapy UX111 early in life in a clinical trial continue to show cognitive development gains beyond the age where patients usually start regressing. These improvements were associated with reductions in heparan sulfate (HS) in the children’s cerebrospinal fluid…

Developing biomarkers may help support accelerated federal approval for treatments in Sanfilippo syndrome and related diseases. That was the subject of an in-person and virtual workshop last month by the Reagan-Udall Foundation for the Food and Drug Administration that discussed primary disease activity biomarkers and focused on…

The European Medicines Agency (EMA) has granted orphan drug status to GC1130A, an investigational brain-penetrant enzyme replacement therapy that’s in preclinical testing for Sanfilippo syndrome type A. GC1130A, which is being developed by GC Biopharma with Novel Pharma, was also awarded…

An experimental enzyme replacement therapy (ERT), called JR-441, for Sanfilippo syndrome type A has been designated an orphan drug by the U.S. Food and Drug Administration, the treatment’s developer, JCR Pharmaceuticals, has announced. The designation is given to therapies being developed for conditions affecting fewer than 200,000 people…

Note: This story was updated Dec. 11, 2023, to correct that Kyowa Kirin has entered into an agreement to acquire Orchard Therapeutics, which will be finalized next year. The story also corrected that OTL-200, Libmeldy, is under priority review by the U.S. Food and Drug Administration with a review date…

JCR Pharmaceuticals is now recruiting children and adolescents with Sanfilippo syndrome type A for a Phase 1/2 clinical trial testing its enzyme replacement therapy JR-441 at a single location in Hamburg, Germany. The first patient in the trial recently was dosed, according to a press release from…

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,…

A carbohydrate molecule derived from marine bacteria was able to reduce inflammation in the brain, reverse metabolic dysfunction, and preserve brain tissue integrity in a mouse model of Sanfilippo syndrome type A, according to a new study. These benefits corresponded to an easing of motor deficits in the mouse…

Standardized tests that measure memory, motor function, and well-being can be used to track the progression of neurological dysfunction in a mouse model of Sanfilippo syndrome type A, a study shows. “Our data show that the water cross maze, hind-limb gait, nest building, and burrowing are useful assessments to…

JCR Pharmaceuticals has won permission from officials in Germany to start a Phase 1/2 clinical trial of JR-441, an experimental therapy designed to deliver to the brain a working version of the enzyme that’s missing in Sanfilippo syndrome type A. The Paul-Ehrlich Institute (PEI), an agency of the…