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The U.S. Food and Drug Administration granted its regenerative medicine advanced therapy (RMAT) designation to Abeona Therapeutics‘ investigative gene therapy ABO-102, under development for the treatment of Sanfilippo syndrome type A. Also known as MPS IIIA (mucopolysaccharidosis type IIIA), Sanfilippo syndrome type A is a severe and progressive disorder caused…

Subcutaneous pentosan polysulfate (PPS) treatment reduces overall inflammation and brain degeneration, improving hyperactivity/anxiety and learning behavior in Sanfillipo syndrome type A, according to a mouse study. The study, “Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice,” was published in the Journal of Inherited Metabolic Disease.

Researchers have diagnosed an infant with two rare conditions, Sanfilippo syndrome type B and skeletal dysplasia, using a genetic technique that examines all protein-coding genes in the body’s cells. The finding underlines the value of using genome sequencing for precise diagnostics, particularly in rare and complex diseases.

Injecting a modified version of the NAGLU enzyme directly into the brains of mice with Sanfilippo syndrome type B normalized the enzyme’s activity and cleared the accumulation of heparan sulphate from the central nervous system of the affected mice. The study, “Clearance of Heparan Sulfate and Attenuation…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Iron accumulation in the brain, induced by inflammation, may contribute to the development and progression of Sanfilippo syndrome type B, according to a mouse study. The study, “Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease,” was published in the journal…

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…

High numbers of antibodies targeting different types of adeno-associated viruses (AAV) pose challenges for AAV-based gene therapies in Sanfilippo syndrome children, according to researchers. The study, “Differential prevalence of antibodies against adeno-associated virus in healthy children and patients with mucopolysaccharidosis III: perspective for AAV-mediated gene therapy,” was published…

The Nuffield Council on Bioethics, an independent advisory group on ethical issues in bioscience in the United Kingdom and abroad, recently published briefing material on the ethical issues raised by the whole genome sequencing of newborns and small infants. This sequencing is now being used in the U.K.’s National Health…

A mouse model for Sanfilippo Syndrome type B recreates the main characteristics of humans with the disease, indicating a potential use for therapeutic approaches. The study with that finding, “Development of Sensory, Motor and Behavioral Deficits in the Murine Model of Sanfilippo Syndrome Type B,” was published in the…