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…

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…

It may be possible, in some atypical hemolytic uremic syndrome (aHUS) cases, to limit the duration of treatment with Soliris (eculizumab), the therapy of choice for this disease, according to Gema Ariceta, MD, an expert in kidney diseases at the Universitat Autonoma de Barcelona in Spain. However,…

Scientists have created a new mouse model for atypical hemolytic uremic syndrome (aHUS) that fully mirrors the clinical symptoms of the disease seen in human patients. The animals, which harbor a genetic mutation in the C3 protein, may be used in the future to test new therapeutic agents…

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…

A pregnant woman who came to a hospital complaining of a variety of ills was diagnosed with atypical hemolytic uremic syndrome (aHUS) through genetic testing in a process described in a case report, and responded well to treatment with Soliris (eculizumab). The case study, “Diagnosis of atypical…

Interval treatment with Soliris (eculizumab) may have a steady and prolonged effect in treating people with atypical hemolytic uremic syndrome (aHUS) with limited access to the costly drug, a case report suggests. Further studies focused on defining the best dose and regimen are still required, researchers said.

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…

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…

Laboratory tests to evaluate the long-term treatment effects of Soliris (eculizumab) on complement inhibition — stopping an overly aggressive immune response — in patients with atypical hemolytic uremic syndrome (aHUS) are useful, a case report shows. The case report study, “Clinical and Complement Long-Term Follow-Up of a Pediatric…