Patricia Inácio, PhD,  science writer—

A group of experts has discussed and released a series of recommendations for future trials’ design in Sanfilippo syndrome. The study, “Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III” was published in the journal Orphanet Journal of Rare Diseases. Sanfilippo syndrome, or mucopolysaccharidosis type III, belongs…

Swedish Orphan Biovitrum AB’s (Sobi) has dosed the first patient in its Phase 1/2 clinical trial evaluating SOBI003 to treat Sanfilippo syndrome type A. The SOBI003-001 study (NCT03423186), which is still recruiting participants, intends to assess the therapy’s safety, tolerability and effectiveness when delivered to Sanfilippo A children, 1 to 6 years…

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…

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…

Researchers have developed and characterized the first fruit fly model for Sanfilippo syndrome to help advance knowledge about the cellular and molecular mechanisms that drive symptoms of the condition. The study “Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA” was published in the journal…

It still takes doctors in Holland up to three years to diagnose the rare disease mucopolysaccharidosis — a situation that hasn’t changed in three decades, researchers report. They called for new national guidelines that could help doctors do a better job of screening children with developmental problems for mucopolysaccharidosis and other…

Mild to moderate hearing loss is common among children and young adults with different mucopolysaccharidosis (MPS) diseases, including Sanfilippo syndrome, a small study reports. The study, “Audiometric evaluation in individuals with muco-polysaccharidosis,” appeared in the journal Clinics. MPS disorders are identified by deficiencies in lysosomal enzymes involved…