Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Bloody stools in children with atypical hemolytic uremic syndrome (aHUS) may indicate the simultaneous presence of inflammatory bowel disease (IBD), three case studies report. These findings raise questions about the connection between aHUS and its associated defects in the complement system, and the gut inflammation characteristic of…
Clinical features and outcomes of patients with anti-factor H antibody, associated with atypical hemolytic uremic syndrome (aHUS), were reported in a nationwide study conducted by Indian researchers. The study, “Clinical and Immunological Profile of Anti-factor H Antibody Associated Atypical Hemolytic Uremic Syndrome: A Nationwide Database,” was published…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
Therapies against the complement C5 protein, the target of Soliris (eculizumab), may be more effective than targeting proteins downstream of the C5 protein in the complement system signaling cascade in atypical hemolytic uremic syndrome (aHUS), a new mouse study shows. The study, “Differential contribution of C5aR…
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…
Treatment with Soliris (eculizumab, sold by Alexion) for recurrent atypical hemolytic uremic syndrome (aHUS) can result in the accumulation of antibodies in the kidneys, a rare case suggests. The case was described in the study “Monoclonal IgG4/2κ Deposition Following Eculizumab Therapy for Recurrent Atypical Hemolytic…
The U.S. Food and Drug Administration (FDA) has granted Priority Review to the supplemental Biologics License Application (sBLA) for Alexion‘s Ultomiris (ravulizumab-cwvz) for the treatment of patients with atypical hemolytic uremic syndrome (aHUS). aHUS is caused by the progressive destruction of red…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Get regular updates to your inbox.