News

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…

Sanfilippo syndrome type A patients treated with the gene therapy candidate ABO-102 continue to show robust and sustained clinical improvements in a Phase 1/2 trial, its developer, Abeona Therapeutics, reports. The company presented updated results of its open-label study (NCT02716246) at the recent American Society for…

The time it takes to diagnose mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, haven’t improved in nearly three decades in the Netherlands and persists as a problem that must be resolved, researchers reported. Campaigns to raise awareness and reduce diagnostic delays have failed in the…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…