Over the next two decades, the economic burden of Sanfilippo syndrome in the U.S. is expected to exceed $2 billion, according to research that the National Institutes of Health (NIH) called “the first disease burden value estimate” ever done for the rare disease. “Our results suggest that [Sanfilippo…
News
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…
Recent Posts
- Hope and anguish collide with news of the first Sanfilippo treatment
- Children sought for clinical trial of Sanfilippo syndrome treatment
- FDA approves new gene therapy as first treatment for Sanfilippo A
- My son is starting to ask questions about his special needs sibling
- Groups invest $5.5M to expand access to experimental Sanfilippo B drug
- Moving may be good for our daughter, but the thought of it seems daunting
- Online research platform for Sanfilippo families goes live
- Thinking about my daughter’s future includes planning her funeral
- Enzyme therapy protects kids’ brain function for up to 6 years
- Accepting my daughter’s Sanfilippo diagnosis has allowed me to heal