Cognitive and imaging data are sensitive markers that can be used to assess changes in the disease course of Sanfilippo syndrome type B and evaluate new therapies, according to researchers. Their study, “Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B,” was published in the Journal of…
At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…
Lysogene’s Phase 2/3 trial on LYS-SAF302 gene therapy, a clinical candidate for Sanfilippo syndrome type A, will begin in the second half of 2018 due to manufacturing delays. LYS-SAF302 is a viral vector that carries a healthy SGSH gene. This gene gives instructions to produce an enzyme called sulfamidase, which…
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…
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