Marta Figueiredo, PhD,  science writer—

SOBI003, Swedish Orphan Biovitrum AB (Sobi)’s chemically modified version of sulfamidase — the missing enzyme in Sanfilippo syndrome type A — is superior to its original version at reaching and persisting in the brain, a study in rats suggests. These findings further support the already ongoing…

Researchers have developed two induced pluripotent stem cell (iPSC) lines with NAGLU mutations — the underlying cause of Sanfilippo syndrome type B — using CRISPR-Cas9 gene editing technology. Since iPSCs have the potential to generate virtually any other cell, including nerve cells, they can be used…

Lysogene’s gene therapy candidate LYS-SAF302 corrected enzymatic deficiency, normalized heparan sulfate levels, and reduced brain lesions and neuroinflammation in a mouse model of Sanfilippo syndrome type A. LYS-SAF302’s use was also seen to efficiently and broadly increase the activity of sulfamidase — the enzyme lacking in Sanfilippo…

Gene therapy has the potential to effectively target the underlying cause of Sanfilippo syndrome and delay or prevent neurodegeneration, according to a review study. Data from ongoing and future clinical trials are expected to help determine the most effective delivery strategies with the fewest associated risks. These novel approaches…

Allievex, a new clinical-stage biotechnology company founded by Pappas Capital, will continue the clinical program of BioMarin Pharmaceutical‘s tralesinidase alfa (formerly known as BMN 250) for the treatment of people with Sanfilippo syndrome type B. Allievex has obtained an exclusive worldwide license for tralesinidase…

Growth impairment among mucopolysaccharidosis (MPS) disorders is milder in people with MPS III (Sanfilippo syndrome) and most profound in those with MPS IVA (Morquio A syndrome), a study in Taiwanese patients suggests. Its findings help in better understanding the characteristic growth patterns of each MPS type,…

Sanfilippo syndrome type A leads to changes in the metabolism of gangliosides (sugar-fat molecules) and sphingolipids (fat molecules) in different brain regions, and at different stages of the disease, according to a mouse study. These findings pinpoint sphingolipids as potential therapeutic targets in people with this condition. The…

Sanfilippo syndrome type A leads to toxic accumulation of several molecules in nerve cell axons — the structures responsible for conducting messages — of different brain regions, which correlates with disease progression, according to a mouse study. Researchers believe this toxic accumulation is likely to impair nerve cell communication and…

While toxic accumulation of large sugar molecules, called heparan sulfate, are present in certain mucopolysaccharidosis (MPS) disorders with brain involvement, it is still unclear whether this molecule is the primary cause of brain damage or a secondary aspect of other processes, a recent review highlights. Scientific data suggests that additional…

Sanfilippo syndrome type A leads to the accumulation of other large sugar molecules besides the characteristic heparan sulfate in several organs, according to a mouse study from Italy. The study, “Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase…