M041, an enzyme replacement therapy M6P Therapeutics (M6PT) is developing for Sanfilippo syndrome type B, can effectively be transported into cells, proof-of-concept preclinical data show. With data showing such “increased efficiency … M041 is a potential novel recombinant enzyme therapy for Sanfilippo B syndrome,” M6PT said in a…

Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is not yet known, its researchers said. The study, “Clinical and genetic features of 13 patients with…

Injecting BMN 250 — a potential enzyme replacement therapy for Sanflippo type B — directly into the fluid around the brain is a more effective way than intravenous infusion to get the treatment into the brain, a study in animal models suggests. The study, “Translational studies of…

Using different cellular models of Sanfilippo syndrome type B, researchers have found that exposure time and dose significantly affect the cellular uptake of BMN 250, an investigational enzyme replacement therapy, and the clearance of sugar molecules called heparan sulfate. The study, “Differential uptake of NAGLU-IGF2 and…

Investigational enzyme replacement therapy BMN-250 successfully delivers the NAGLU enzyme — present in low levels in Sanfilippo type B patients — to key cells of the brain using different cellular pathways, a study has found. The study, “BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different…

Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a Phase 1/2 clinical trial shows. The findings of the study, “Final results of the phase 1/2, open-label clinical…

Two new experimental stem cell lines derived from a patient with mucopolysaccharydosis IIIB (MPSIIIB), also known as Sanfilippo syndrome type B, were developed by Spanish researchers. These stem cells will complement existing mouse models of the disease and may allow the development of a more reliable human model of…

Culturing skin cells from patients with Mucopolysaccharidosis IIIB (MPS IIIB) at lower temperatures promotes the production of the active form of the alpha-N-acetylglucosaminidase (NAGLU) enzyme, researchers have found. These results may be relevant for the development of new therapeutic strategies for MPS IIIB, also known as Sanfilippo syndrome type B. The…

Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using an artificial viral vector successfully corrected metabolic abnormalities in a mouse model of Mucopolysaccharidosis IIIB (MPS IIIB), also known as Sanfilippo syndrome, a new study using mice shows. The study, “Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional…