The global aHUS registry: methodology and initial patient characteristics

• Type of Material: Article
• Authors: Christoph Licht, The Hospital for Sick Children; Gianluigi Ardissino, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Gema Ariceta, University Hospital Vall d’Hebron; David Cohen, Columbia University; J. Alexander Cole, Alexion Pharmaceuticals, Inc.; Christoph Gasteyger, Alexion Pharma International; Larry Greenbaum, Emory University; Sally Johnson, Royal Victoria Infirmary; Masayo Ogawa, Alexion Pharmaceuticals, Inc.; Franz Schaefer, Heidelberg University; Johan Vande Walle, Ghent University; Véronique Frémeaux-Bacchi, Assistance Publique-Hôpitaux de Paris
• Language: English
• Date: 2015-12-10
• Publisher: BioMed Central
• Publication Version: Final Published Version
• Copyright Statement: © Licht et al. 2015
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1186/s12882-015-0195-1
• Title of Journal or Parent Work: BMC Nephrology
• ISSN: 1471-2369
• Volume: 16
• Issue: 1
• Start Page: 207
• End Page: 207
• Keywords: HEMOLYTIC-UREMIC SYNDROME; INSIGHTS; Renal insufficiency; Life Sciences & Biomedicine; MICROANGIOPATHY; Complement; Hemolytic uremic syndrome; Urology & Nephrology; Science & Technology; COMPLEMENT; ECULIZUMAB; THROMBOTIC THROMBOCYTOPENIC PURPURA; MUTATIONS
• Research Categories: Health Sciences, Pharmacology; Health Sciences, Medicine and Surgery; Health Sciences, General

Abstract

Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, genetically-mediated systemic disease most often caused by chronic, uncontrolled complement activation that leads to systemic thrombotic microangiopathy (TMA) and renal and other end-organ damage. Methods: The global aHUS Registry, initiated in April 2012, is an observational, noninterventional, multicenter registry designed to collect demographic characteristics, medical and disease history, treatment effectiveness and safety outcomes data for aHUS patients. The global aHUS Registry will operate for a minimum of 5 years of follow-up. Enrollment is open to all patients with a clinical diagnosis of aHUS, with no requirement for identified complement gene mutations, polymorphisms or autoantibodies or particular type of therapy/management. Results: As of September 30, 2014, 516 patients from 16 countries were enrolled. At enrollment, 315 (61.0 %) were adults (≥18 years) and 201 (39.0 %) were <18 years of age. Mean (standard deviation [SD]) age at diagnosis was 22.7 (20.5) years. Nineteen percent of patients had a family history of aHUS, 60.3 % had received plasma exchange/plasma infusion, 59.5 % had a history of dialysis, and 19.6 % had received ≥1 kidney transplant. Overall, 305 patients (59.1 %) have received eculizumab. Conclusions: As enrollment and follow-up proceed, the global aHUS Registry is expected to yield valuable baseline, natural history, medical outcomes, treatment effectiveness and safety data from a diverse population of patients with aHUS. Trial registration: US National Institutes of Health www.ClinicalTrials.gov Identifier NCT01522183 . Registered January 18, 2012.