News

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…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Treatment with plasma exchange (PEX) was safe, restored kidney function and led to no requirement of dialysis at three months in most children with atypical hemolytic uremic syndrome (aHUS), according to research from India. The study, “Membrane-filtration based plasma exchanges for atypical hemolytic uremic syndrome: Audit…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

A novel genetic variant of the CFH gene, which encodes an important protein from the immune complement system, was linked to the development of atypical hemolytic uremic syndrome (aHUS) in a German woman. Her case was reported in a study, “…