Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
News
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Injecting BMN 250 — a potential enzyme replacement therapy for Sanflippo type B — directly into the fluid around the brain is a more effective way than intravenous infusion to get the treatment into the brain, a study in animal models suggests. The study, “Translational studies of…
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,…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
Seelos Therapeutics announced it will meet with the European Medicines Agency (EMA) in March to seek scientific advice and assistance for a European clinical study of SLS-005 (trehalose) in patients with Sanfilippo syndrome…
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…
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