The first fly model of Sanfilippo syndrome type A has been developed and characterized, providing new data on genes involved in disease development. The study, “Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA,” appeared in the journal Experimental Neurology. Sanfilippo…
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Shire, Microsoft and Rare Diseases Europe have formed an alliance to try to accelerate the time it takes to diagnose children with rare diseases such as Sanfilippo syndrome. Meanwhile, Shire said it is holding or taking part in 40 events on Rare Disease Day (Feb. 28) to raise…
In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…
David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…
A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…
It still takes doctors in Holland up to three years to diagnose the rare disease mucopolysaccharidosis — a situation that hasn’t changed in three decades, researchers report. They called for new national guidelines that could help doctors do a better job of screening children with developmental problems for mucopolysaccharidosis and other…
Administration of enzyme replacement therapy (ERT) in the cerebrospinal fluid directly through the spinal canal can quickly reach the brain and the rest of the body, compared to intravenous (IV) delivery, according to an animal study. The study’s results support this delivery method for the treatment of Sanfilippo syndrome…
Abeona Therapeutics announced that ABO-102 (AAV-SGSH), an investigational therapy for Sanfilippo syndrome type A (MPS IIIA), demonstrated significant and durable clinical effects at various time points in a clinical trial. Results were reported last week at the World Symposium for Lysosomal Diseases in San Diego, California, and are…
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BioMarin Presents Phase 1/2 Interim Results for Enzyme Replacement Therapy in Sanfilippo B Syndrome
BioMarin Pharmaceutical announced interim results for its Phase 1/2 trial evaluating BMN 250, an enzyme replacement therapy, for the treatment of Sanfilippo B syndrome, also called mucopolysaccharidosis IIIB. The results, presented at WORLDSymposium 2018, show that treatment with BMN 250 via brain infusions helped restore normal levels of heparan…
Abeona Therapeutics has reported preliminary 30-day safety and efficacy results from the first patient dosed in the company’s ongoing Phase 1/2 trial of a single treatment gene therapy candidate for Sanfilippo syndrome type B. The trial (NCT03315182) is testing Abeona’s first-in-human, adeno-associated viral (AAV)-based gene therapy ABO-101. The treatment…
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