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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…

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…

The U.S. Food and Drug Administration (FDA) has accepted an investigational new drug (IND) application for Swedish Orphan Biovitrum AB‘s (Sobi) enzyme replacement therapy SOBI003, for the treatment of Sanfilippo syndrome type A. The FDA also granted the therapy fast track status, which is expected to accelerate its clinical development and regulatory…

Mild to moderate hearing loss is common among children and young adults with different mucopolysaccharidosis (MPS) diseases, including Sanfilippo syndrome, a small study reports. The study, “Audiometric evaluation in individuals with muco-polysaccharidosis,” appeared in the journal Clinics. MPS disorders are identified by deficiencies in lysosomal enzymes involved…

Heparan sulfate accumulation is not a good indicator of Sanfilippo syndrome type A symptom onset, a new mouse model of the disease suggests. This finding, reported in the study, “A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome,” reiterates other…