News

Very little is still known about the clinical features and natural course of Sanfilippo syndrome, also known as mucopolysaccharidosis (MPS) III, a rare disease that can significantly affect children’s development and lead to poor outcomes, a review study highlights. The study, “Epidemiology of Sanfilippo syndrome:…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

A diagnosis of Sanfilippo syndrome may result in the parents of patients developing psychological disorders, including depression, anxiety, distress (extreme anxiety), and post-traumatic stress, a Dutch study reveals. The study, “Psychosocial functioning in parents of MPS III patients,” was published in JIMD Reports. Sanfilippo syndrome, or…

Abeona Therapeutics will begin a Phase 1/2 clinical trial in Spain testing the company’s investigational gene therapy ABO-101 in patients with Sanfilippo syndrome type B. The company has received approval from the Spanish Agency for Medicines and Health Products (AEMPS) and will start the trial at University Hospital of Santiago…

A comprehensive analysis of compounds present in the urine of patients with Sanfilippo syndrome provides new insight into the biological processes likely involved in the disease. The research could help to eventually identify disease biomarkers. The study, “Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and…

Perlara and the Cure Sanfilippo Foundation are collaborating on an initative called Sanfilippo PerlQuests to identify new disease targets and develop treatments for patients with Sanfilippo syndrome. “We’re excited for the opportunity to work with the Cure Sanfilippo Foundation and CSF families and researchers,” Ethan Perlstein, PhD, the founder…

Among all four subtypes of Sanfilippo syndrome (also called mucopolysaccharidosis type III, or MPS III), Sanfilippo type B is the most frequent subtype among the Taiwanese population, according to a retrospective study. These findings are essential for the early diagnosis and timely management of this disorder, as well…

While toxic accumulation of large sugar molecules, called heparan sulfate, are present in certain mucopolysaccharidosis (MPS) disorders with brain involvement, it is still unclear whether this molecule is the primary cause of brain damage or a secondary aspect of other processes, a recent review highlights. Scientific data suggests that additional…

Results from a Phase 3 clinical trial evaluating the use of high-dose genistein in children with Sanfilippo syndrome shows that its use has no meaningful clinical benefit. Sanfilippo syndrome — also known as Mucopolysaccharidosis III — encompasses a group of rare diseases that are caused by a deficiency in one…

Brain transplantation of genetically corrected stem cells partially restored enzymatic activity in mice with Sanfilippo syndrome, according to UCLA researchers. Their study, “Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice,” was published in the journal Molecular Therapy Methods…