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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…

The accumulation of heparan sulfate in Sanfilippo syndrome type B can alter sulfur metabolism in the body, which seems to be sex- and organ-specific, a mouse study suggests. The study, “Effect of glycosaminoglycans accumulation on the non-oxidative sulfur metabolism in mouse model of Sanfilippo syndrome, type…

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…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Physicians should be aware that milder and slow-progressing forms of Sanfilippo syndrome may not be associated with severe cognitive impairments and may emerge differently later in life, a study has found. The research, “The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

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…