Ashraf Malhas, PhD,  —

Sanfilippo syndrome patients present cardiac abnormalities with mild progression over time. However, these symptoms do not raise any specific concerns for gene transfer clinical trials in this patient population, according to a recent natural history study. The study, “Natural history of echocardiographic abnormalities in mucopolysaccharidosis III,” was…

Several approaches are currently being investigated to allow the delivery of novel therapeutic agents into the central nervous system and target neurological symptoms in patients with mucopolysaccharidosis disorders, including Sanfilippo syndrome. Although patients with mucopolysaccharidosis (MPS) disorders can suffer from neurological disorders that include neurocognitive decline and behavioral problems, treating these…

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…

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…

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.