News

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…

Treatment with Ultomiris (ravulizumab-cwvz) normalized platelet counts, eased hemolysis  (destruction of red blood cells), and improved kidney function in a Phase 3 trial in patients with atypical hemolytic uremic syndrome (aHUS) who had not been treated with complement inhibitors. Specifically, 53.6% of patients showed complete thrombotic microangiopathy (TMA)…

Treatment with Soliris (eculizumab) is an effective strategy to manage atypical hemolytic uremic syndrome (aHUS) even when manifested with atypical neurological symptoms, a rare case reported by Turkish researchers suggests. The case was described in the study, “An adult case of atypical hemolytic uremic syndrome…

A new case report described a baby with respiratory failure who was diagnosed with atypical hemolytic uremic syndrome (aHUS) after suspicion of Streptococcus pneumoniae (SPN)-induced HUS (pHUS). The study, “A Case of Suspected Streptococcus Pneumoniae Hemolytic Uremic Syndrome (pHUS) with Utilization of Minor Crossmatching for Platelet…

A rare case report described a woman with genetic and clinical evidence of atypical hemolytic uremic syndrome (aHUS), along with Alport syndrome and pauci-immune crescentic glomerulonephritis (PCGN), suggesting a shared disease mechanism among the three renal conditions. The study, “A rare case of Alport syndrome,…

Extra-renal manifestations in children with atypical hemolytic uremic syndrome (aHUS) are most common in the central nervous system (CNS), a study has found. According to the study, these neurological symptoms are associated with higher mortality and worse kidney function. The findings also revealed the beneficial effects of treatment with…

Omeros Corporation, in collaboration with the University of Cambridge, has established a new research center that will focus on the development of therapies for complement- and inflammation-related disorders, including atypical hemolytic uremic syndrome (aHUS). One of the main aims of the Omeros Center at Cambridge for Complement…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…