News

Ultragenyx Pharmaceutical has submitted a biologics license application (BLA) to the U.S. Food and Drug Administration (FDA) seeking accelerated approval of its gene therapy UX111 for Sanfilippo syndrome type A. If approved, UX111 would become the first therapy to be cleared in the U.S. for Sanfilippo, a…

The release of extracellular vesicles (EVs) from microglia may play a key role in driving neurodegeneration in Sanfilippo syndrome. EVs are tiny particles that carry a variety of cargo, such as proteins and DNA, between cells to facilitate cell-to-cell communication. Microglia are a class of immune cells in the…

A Phase 1 clinical trial in Japan that’s testing JCR Pharmaceuticals‘ experimental enzyme replacement therapy JR-441 for treating Sanfilippo syndrome type A has dosed its first patient. The study will test the therapy as a once-weekly infusion into the bloodstream in children and adolescents, ages 1-18 to…

A number of proteins that accumulate to toxic levels in other neurodegenerative diseases also build up in cells derived from patients with all types of Sanfilippo syndrome, but treating the cells with a molecule to reduce heparan sulfate, which accumulates in Sanfilippo, also caused the other protein levels to…

JCR Pharmaceuticals said it received permission from the Pharmaceuticals and Medical Devices Agency (PMDA), a regulatory agency in Japan, to start a Phase 1 clinical trial of JR-441, an experimental enzyme replacement therapy for Sanfilippo syndrome type A. The company didn’t provide details. “We are pleased that the…

The U.S. Food and Drug Administration (FDA) has selected DNL126, an enzyme replacement therapy being developed by Denali Therapeutics for Sanfilippo syndrome type A, to join its START pilot program — fully, Support for Clinical Trials Advancing Rare Disease Therapeutics. As part of this pilot program, launched last…

GC1130A, an experimental enzyme replacement therapy (ERT) for Sanfilippo syndrome type A, has been put on the fast track by the U.S. Food and Drug Administration (FDA), its developers GC Biopharma and Novel Pharma have announced. “We are pleased with the FDA’s decision to grant fast track…

GC Biopharma and Novel Pharma plan to initiate a Phase 1 clinical trial this year to test the safety and tolerability of  GC1130A, an investigational enzyme replacement therapy that the companies are developing for Sanfilippo syndrome type A. The announcement follows the U.S. Food and Drug Administration…

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…

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…