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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…

A gene therapy led to the brain producing the proper form of an enzyme whose faulty version causes Sanfilippo syndrome type B, a Phase 1/2 clinical trial showed. The therapy,  rAVV2/5, also improved the neurological condition and behavior of the four preschool-age children involved in the study (ISRCTN19853672), researchers said.

Sanfilippo syndrome patients show symptoms of autism spectrum disorder (ASD), specifically in the areas of speech, language, and communication, which can lead to misdiagnosis or late diagnosis, a data review shows. The review, “Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…