News

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…

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,…