Development and implementation of the AIDA international registry for patients with Schnitzler's syndrome

Abstract

ObjectiveThe present paper describes the design, development, and implementation of the AutoInflammatory Disease Alliance (AIDA) International Registry specifically dedicated to patients with Schnitzler's syndrome.MethodsThis is a clinical physician-driven, population- and electronic-based registry implemented for the retrospective and prospective collection of real-life data from patients with Schnitzler's syndrome; the registry is based on the Research Electronic Data Capture (REDCap) tool, which is designed to collect standardized information for clinical research, and has been realized to change over time according to future scientific acquisitions and potentially communicate with other existing or future similar registries.ResultsSince its launch, 113 centers from 23 countries in 4 continents have been involved. Fifty-seven have already obtained the approval from their local Ethics Committees. The platform counts 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) at current (April 28th, 2022). The registry collects baseline and follow-up data using 3,924 fields organized into 25 instruments, including patient's demographics, history, clinical manifestations and symptoms, trigger/risk factors, laboratory, instrumental exams, therapies, socioeconomic information, and healthcare access.ConclusionsThis International Registry for patients with Schnitzler's syndrome facilitates standardized data collection, enabling international collaborative projects through data sharing and dissemination of knowledge; in turn, it will shed light into many blind spots characterizing this complex autoinflammatory disorder.

Calcinosis Cutis and Calciphylaxis in Autoimmune Connective Tissue Diseases

“…Autoinflammatory diseases are rare conditions caused by innate immunity abnormalities, which include familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS), and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome [ 123 ]. The other conditions often included in this group since they have many similarities with hereditary autoinflammatory diseases are Still’s disease [ 124 ] and Schnitzler’s syndrome [ 125 ]. Calcinosis is generally uncommon in these patients.…”

VEXAS‐Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations

“…The Autoinflammatory Disease Alliance (AIDA) has recently implemented an international registry for VEXAS syndrome patients. This is intended to gather further information on the spectrum of clinical symptoms as well as the genotype/phenotype correlation and the prognosis of different subtypes, so diagnostic algorithms and standardized recommendations on the treatment of VEXAS syndrome may be developed in the future 40 …”

VEXAS‐Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen

“…Beide hier vorgestellten Patienten wiesen die Mutation p.(Met41Leu) auf, die häufiger als andere Mutationen mit Sweet‐Syndrom‐artigen Hautmanifestationen assoziiert ist 5 . Ein internationales Register für Patienten mit VEXAS‐Syndrom wurde kürzlich durch die Autoinflammatory Disease Alliance (AIDA) implementiert, um anhand weiterer Erkenntnisse zum Spektrum klinischer Symptome sowie zur Genotyp‐Phänotyp‐Korrelation und Prognose verschiedener Subtypen diagnostische Algorithmen und standardisierte Empfehlungen zur Therapie des VEXAS‐Syndroms zu entwickeln 40 …”