News

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Hernias, flat feet, joint rigidity, and keen misalignment are among the clinical symptoms at diagnosis in patients with mucopolysaccharoidosis (MPS) including Sanfilippo syndrome, according to Mexican study. The research, “Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico,” was published in…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Investigational enzyme replacement therapy BMN-250 successfully delivers the NAGLU enzyme — present in low levels in Sanfilippo type B patients — to key cells of the brain using different cellular pathways, a study has found. The study, “BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different…

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…