News

New formulations based on sugar molecules may improve the properties of candidate compounds for substrate reduction therapy to treat Sanfilippo syndrome, researchers have found. The study, “Cyclodextrin encapsulation of daidzein and genistein by grinding: implication on the glycosaminoglycan accumulation in mucopolysaccharidosis type II…

A retrospective analysis on magnetic resonance images from patients with mucopolysaccharidoses (MPS), including Sanfilippo syndrome, revealed jaw bone defects specific to certain disease subtypes. Researchers also found that some of these craniofacial abnormalities, which are those relating to the bones of the skull and face, were not corrected even…

Researchers have discovered a new mutation in the NAGLU gene that is associated with Sanfilippo syndrome type B. They described the mutation in a case report titled, “A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B),” published…

A new treatment approach effectively carried the enzyme defective in Sanfilippo type A syndrome into the brains of mice in a disease model, researchers report, suggesting the strategy used may be of future importance to patients. The study, “Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan…

A new test that uses dried blood spots has been developed for diagnosing Sanfilippo syndrome type A. This test would prove especially useful for disease screening in newborns, according to a study. The study, “Detection of Mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in Dried Blood Spots (DBS) by Tandem Mass Spectrometry,” was published in …

Abeona Therapeutics has announced the opening of The Elisa Linton Center for Rare Disease Therapies, a commercial manufacturing facility for advanced gene and cell therapies in Cleveland, Ohio. The new GMP (good manufacturing practices) facility will have the capability to manufacture clinical and commercial grade products over Abeona’s multiple programs, including …

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

Using a specific technique to measure the levels of a sugar called glycosaminoglycan in blood and urine can identify all types of mucopolysaccharidosis (MPS) — including Sanfilippo syndrome — and help assess the therapeutic value of treatments, according to researchers. Their study, “Glycosaminoglycans analysis in blood and urine…

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…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…