News

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Pentosan polysulfate sodium, an approved medication commonly used to treat bladder pain, will now be repurposed to potentially treat mucopolysaccharidosis (MPS) under the terms of two new licensing agreements. The oral therapy is approved by the U.S. Food and Drug Administration and marketed under the brand names Elmiron and Thrombocid, among others.

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…

Spinal cord decompression — a type of spinal surgery — should be done on mucopolysaccharidosis (MPS) patients who have lesions in their spine to prevent or reverse neurological issues, a study shows. The study, “Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis:…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a Phase 1/2 clinical trial shows. The findings of the study, “Final results of the phase 1/2, open-label clinical…

Abeona Therapeutics is planning to expand its ongoing ABO-102 gene therapy Phase 1/2 trial to include patients with Sanfilippo syndrome type A (MPS IIIA) at earlier stages of the disease. “The encouraging data generated to date and our interactions with the U.S. Food and Drug Administration (FDA) and European…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Two new experimental stem cell lines derived from a patient with mucopolysaccharydosis IIIB (MPSIIIB), also known as Sanfilippo syndrome type B, were developed by Spanish researchers. These stem cells will complement existing mouse models of the disease and may allow the development of a more reliable human model of…

They had a son they adored, and now Cara and Glenn O’Neill longed for a girl. After a couple of miscarriages, they were overjoyed at the birth of Eliza. But 3 1/2 years later, their daughter was diagnosed with Sanfilippo syndrome. After establishing a foundation and raising more than…