Marta Figueiredo, PhD, science writer —

A single dose of Abeona Therapeutics’ investigational gene therapy ABO-102 safely preserved normal cognitive development for up to three years in young children with Sanfilippo syndrome type A, according to updated data from the Phase 1/2 Transpher A trial. In addition, treatment resulted in sustained and significant reductions…

Genetic metabolic diseases, such as Sanfilippo syndrome, may underlie an autism spectrum disorder (ASD) diagnosis, especially when accompanied with additional symptoms, according to a case series in Turkey. The data suggested that 3.3% of ASD cases may have a metabolism-related genetic cause, which in many cases can be attenuated or…

Sanfilippo syndrome’s characteristic buildup — to toxic levels — of the complex sugar molecule heparan sulfate appears to affect the production of aldosterone, a hormone that controls blood pressure, leading to serious complications, researchers report. They detail what is likely the first known case of…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A gene therapy delivered through a more effective viral carrier safely and effectively corrected enzymatic deficiency, restored cognitive and motor function, and improved survival in a mouse model of Sanfilippo syndrome type A, a study shows. The findings suggest this may…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Parents and relatives of those with Sanfilippo syndrome have a more positive perception of expanded carrier screening (ECS) for pregnancies than the general population, and are more likely to make use of it, according to a survey in the Netherlands. Preconception expanded carrier screening is a comprehensive genetic test…

Mucopolysaccharidosis (MPS) type IVA (Morquio A syndrome) is the most common type of MPS in Mexico, followed by MPS type III (Sanfilippo syndrome), according to five-year data of enzymatic activity tests at a reference center. These findings are in contrast with what is reported for most countries, where…

Researchers have developed an efficient way of screening newborns for eight lysosomal storage diseases — including five mucopolysaccharidosis (MPS) disorders — at the same time, a large Taiwanese study shows. The work suggests that this method could be used in newborn screening around the world to detect these disorders and initiate appropriate…

The U.S. Food and Drug Administration (FDA) has released draft guidelines for the design of clinical trials evaluating investigational therapies in people with Sanfilippo syndrome. “There are no approved therapies to treat this disease and we hope that this guidance will foster greater efficiency and consistency among [therapy] development programs,…