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…
Adults with mucopolysaccharidosis (MPS), including MPS III, also known as Sanfilippo syndrome, have normal blood cholesterol levels and do not show a higher incidence of diabetes, despite their higher body mass index and increased cardiovascular risk, a study…
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…
Analyzing small molecules produced by cells in the blood of Sanfilippo syndrome patients can be used as a minimally invasive tool for biomarker assessment, to help diagnose and assess therapeutic options for these patients. Those findings are in the study “Serum global metabolomics profiling reveals profound metabolic impairments in patients with…
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