Marta Figueiredo, PhD, science writer —

The case of a Mexican youth with Sanfilippo syndrome type B who presented with atypical symptoms of the disease, including growth arrest, sex hormone deficiencies, and a heart defect has been reported by researchers. These previously undescribed manifestations, along with lack of access in Mexico to enzymatic confirmatory tests…

Most children with Sanfilippo syndrome type B show predictable downward trajectories in cognitive function, behavior, and brain volume that resemble those of children with rapidly progressing type A, according to data from two natural history studies. Also, most reach their lowest cognitive and adaptive behavior scores by age 8…

Ultragenyx Pharmaceutical has closed an agreement giving it global licensing, manufacturing, and commercialization rights to UX111 (formerly ABO-102), an experimental gene therapy for Sanfilippo syndrome type A being tested in the pivotal Phase 1/2 Transpher A trial. Ultragenyx will assume responsibility for UX111’s clinical program, while the therapy’s developer, …

Complications shortly after birth and a slow disease progression — combined with poor disease awareness — delayed a correct diagnosis of Sanfilippo syndrome type A for more than two decades in a 28-year-old man in Germany, a study says. While this type is associated with a faster progression, the…

Brain-in-a-Dish, a research project that aims to develop patient-derived cell models to study Sanfilippo syndrome and identify potential treatments, is now moving to a therapy screening phase. This research update came from Australia’s Sanfilippo Children’s Foundation, which together with the goverment’s Medical Research Future Fund granted a total…

The European Commission has granted an orphan drug designation to JR-441, JCR Pharmaceuticals’ brain-penetrating experimental enzyme replacement therapy (ERT) for Sanfilippo syndrome type A, the company has announced. The designation is given to investigative therapies with the potential to be safe and effective for rare, life-threatening, or…

Lysogene is terminating its licensing agreement with Sarepta Therapeutics for LYS-SAF302, its investigational gene therapy for Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA (MPS IIIA). The therapy is being evaluated in children with the condition in a Phase 2/3 clinical trial called AAVance (…

Scientists have discovered a potential novel approach to possibly correct the neurological features of Sanfilippo syndrome type B and other forms of the disease characterized by the accumulation of heparan sulfate and progressive neurodegeneration. Using a cellular model of Sanfilippo type B, the researchers found that clearing excess levels…

Recent advances in treating people with Sanfilippo syndrome and other mucopolysaccharidoses (MPS) were among topics addressed at the 16th International Symposium of MPS and Related Diseases (MPS 2021). The annual event, held virtually July 23–25, was organized by MPS Spain in collaboration with different MPS societies worldwide. The…

A single high dose of ABO-102, Abeona Therapeutics’ experimental gene therapy, prevented disease-associated brain shrinkage in three young children with Sanfilippo syndrome type A for up to two years, according to updated interim data from the Transpher A Phase 1/2 clinical trial. “Brain volume loss is characteristic in children…