News

Patients with Sanfilippo syndrome type A function below a two-year-old level in terms of communication, daily living skills and socialization, according to a small follow-up study of the later stages of the disorder. Motor skills were slightly more preserved. The study also revealed that parent burden shifts from behavioral control…

Adults with mucopolysaccharidosis (MPS), including MPS III, also known as Sanfilippo syndrome, have normal blood cholesterol levels and do not show a higher incidence of diabetes, despite their higher body mass index and increased cardiovascular risk, a study…

For the first time, researchers have created and validated two lines of stem cells derived from the skin cells of a patient with mucoplysaccharydosis IIIA (MPSIIIA), the most severe form of Sanfilippo syndrome. According to the scientists, these patient-derived stem cells could be a useful tool not only to study the…

Genetic substrate reduction therapy (gSRT) may become a promising new avenue to treat patients with lysosomal storage disorders such as Sanfilippo syndrome, according to a review study. The review, “Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders,” published in Diseases, focused on gathering, summarizing, and discussing…

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…