News

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have enhanced their gene therapy collaboration to pursue treatments for lysosomal disorders such as Sanfilippo syndrome. The partnership has been expanded to include a next-generation program in Sanfilippo type A and B.

Increased levels of certain gangliosides, or sugar-fat molecules, in the cerebrospinal fluid of people with Sanfilippo syndrome may be useful biomarkers of disease burden, a study suggests. While this measurement looks promising, investigators stress that more research is needed to confirm its clinical utility.  Monitoring gangliosides in patients…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Growth charts of Sanfilippo patients, created in a German study, can help doctors predict the developmental progress of children affected by this rare disease, and counsel parents on what to expect, the researchers said. The charts, which show growth patterns of people with Sanfilippo syndrome from birth to early…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Abeona Therapeutics has started dosing the second group in its ongoing Phase 1/2 clinical trial testing ABO-101, treating the first patient with Sanfilippo syndrome type B with a high dose of the investigational gene therapy. This follows completion of the first part of the trial (NCT03315182), in…

Active tissue remodeling and treatment-resistant accumulation of toxic molecules are contributing factors in the development of persistent upper airway disease among patients with mucopolysaccharidosis (MPS), a study shows. The study, “Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme…

A new mutation in the SGSH gene associated with Sanfilippo syndrome type A, also known as mucopolysaccharidosis IIIA (MPS IIIA), was discovered in an 8-year-old girl in China, a case study reports. The study underscores the importance of a timely diagnosis…

Researchers at the National Institutes of Health have developed an induced pluripotent stem cell (iPSC) line from a 1-year-old child with a mutated NAGLU gene, the gene responsible for Sanfilippo syndrome type B. These cells may now be used to generate other mature cells, such as neurons, to investigate…

Abeona Therapeutics’ experimental gene therapy ABO-101 for people diagnosed with Sanfilippo syndrome type B has been granted Fast Track designation by the U.S. Food and Drug Administration (FDA). The company is currently enrolling eligible patients at sites across the U.S. and Spain for its Phase 1/2 trial. Fast Track designation is intended to…