Protocol for the EARCO Registry: a pan-European observational study in patients with α₁-antitrypsin deficiency

Abstract

Rationale and objectivesAlpha-1 antitrypsin deficiency (AATD) is a genetic condition that leads to an increased risk of emphysema and liver disease. Despite extensive investigation, there remain unanswered questions concerning the natural history, pathophysiology, genetics and the prognosis of the lung disease in association with AATD. The European Alpha-1 Clinical Research Collaboration (EARCO) is designed to bring together researchers from European countries and to create a standardised database for the follow-up of patients with AATD.Study design and populationThe EARCO Registry is a non-interventional, multicentre, pan-European, longitudinal observational cohort study enrolling patients with AATD. Data will be collected prospectively without interference/modification of patient's management by the study team. The major inclusion criterion is diagnosed severe AATD, defined by an AAT serum level <11 µM (50 mg·dL−1) and/or a proteinase inhibitor genotype ZZ, SZ or compound heterozygotes or homozygotes of other rare deficient variants. Assessments at baseline and during the yearly follow-up visits include lung function testing (spirometry, body plethysmography and diffusing capacity of the lung), exercise capacity, blood tests and questionnaires (symptoms, quality of life and physical activity). To ensure correct data collection, there will be designated investigator staff to document the data in the case report form. All data will be reviewed by the EARCO database manager.SummaryThe EARCO Registry aims to understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision-making.

Long-term effect of α1-antitrypsin augmentation therapy on the decline of FEV1in deficient patients: an analysis of the AIR database

“…Studies of patients not documented for rapid decline post smoking will include a variable portion of patients who stabilise and reduce the power for using FEV 1 as an outcome parameter thus requiring large numbers of subjects to identify statistical differences as in the NHLBI study [ 5 ] and in the meta-analysis by C hapman et al [ 8 ]. To support development of new outcome parameters for research in AATD, the EARCO initiative was established together with the European Respiratory Society [ 34 ]. A protocol was developed to assess complete phenotyping of AATD patients ( www.earco.org ).…”

Research priorities in α1-antitrypsin deficiency: results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration

“…In this context, the European Respiratory Society (ERS) endorsed the creation of the European Alpha-1 Clinical Research Collaboration (EARCO) (3,4), aimed to establish a collaborative effort to advance understanding through research and improving the quality of life of patients with the disease. The first objective of EARCO was to design and implement a prospective, international registry of patients with AATD in order to understand better the natural history and investigate the impact of different therapies, including augmentation therapy, on the course of the disease (8). This registry is already open and recruiting (information available at https://www.earco.eu/registry/).…”

Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO

“…The objectives of the Spanish AATD registry are linked to those of EARCO and have been described in detail in a previous publication (16). Briefly, the main objectives are:…”