Steve Bryson, PhD, science writer —

A newly identified mutation was found in a boy from Kosovo with Sanfilippo syndrome type B alongside a well-known disease-causing mutation, a recent study reported. Because this mutation had never been reported, the researchers said more research is needed to determine its frequency in the Balkan region of southern…

The investigational, brain-penetrating enzyme replacement therapy DNL126 was found to correct neurological signs of Sanfilippo syndrome type A in a mouse model, according to its developer, Denali Therapeutics. Now, the biopharmaceutical company plans to seek U.S. Food and Drug Administration permission — via an investigational new drug application…

Researchers identified 11 new candidate metabolite biomarkers in the urine of people with Sanfilippo syndrome, a study reported. Metabolomics, or examining global changes in metabolites in metabolic disorders such as Sanfilippo syndrome, may shed light on underlying disease mechanisms and provide a source of noninvasive biomarkers to support diagnosis,…

Neurological, behavioral, and MRI examinations of a group of children and adolescents with Sanfilippo syndrome in Brazil showed increased disease severity with age that coincided with progressive brain involvement, according to a new study. Changes in all areas increased in prevalence as the children grew, the researchers noted in…

Brain implantation of genetically corrected stem cells restored NAGLU enzyme activity and reduced signs of Sanfilippo syndrome type B in mice, a study demonstrates. These findings may support further clinical studies using the approach in people diagnosed with Sanfilippo B. In addition, researchers revealed novel features of the condition…

Stem cell gene therapy in children with Sanfilippo syndrome type A was well-tolerated and generated high levels of SGSH, the enzyme missing in people with the condition, according to a Phase 1/2 clinical trial. Elevated SGSH enzyme activity resulted in a rapid and significant drop in urinary and blood…

According to parents of children with Sanfilippo syndrome, developmental delays, hyperactivity, sleep disturbances, hearing loss, and recurrent infections were the most common features of the condition. This study adds to the natural history of Sanfilippo syndrome and underscores the vital role parents and caregivers play in disease research, the…

Sanfilippo syndrome type A was found to be the most predominant form of the rare genetic disorder in Korea in the country’s first natural history study of this patient population. A potential Sanfilippo syndrome diagnosis should be considered when patients show neurodegenerative symptoms such as language and…

A mouse model of Sanfilippo syndrome had persistent energy demands driven by activated heat-generating fat cells and impaired recycling of energy-producing mitochondria, a study revealed. These findings may explain the negative energy balance seen in Sanfilippo patients, which can lead to wasting in severe cases, despite adequate food intake,…

Children with Sanfilippo syndrome type A, including those with severe disease, showed stable or continuously increasing cognitive, language, and motor functions two years after dosing with the investigational gene therapy LYS-SAF302, new data from the AAVance trial showed. The therapy also maintained low levels of the disease-related biomarker heparan sulfate…