Research theme 1: The collection of clinical information from patients genotyped as ZZ or Null AAT deficient organized by EARCO

Protocol synopsis

A Pan-European Multi-Centre Observational Study To Determine The Natural History Of Patients With Alpha-1-Antitrypsin-Deficiency And The Impact Of Augmentation Therapy

Background:

AATD is a genetic condition that leads to an increased risk of emphysema and liver disease. In the past years, the condition has been extensively investigated. However, there remain unanswered questions concerning the natural history, pathophysiology, genetics as well as 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 standardized database including clinical and biological data of patients with AATD.

Purpose/Objectives:

The aim of the study is to generate a pan-European registry population of patients with AATD. We aim to understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision making. Furthermore, we also wish to determine the effect of augmentation therapy on the progression of emphysema and its impact on clinical and functional outcomes in an European “real world” population.

Study Design:

The EARCO registry is a non-interventional, multi-centre, pan-European, observational cohort study enrolling patients with AATD. Data will be collected prospectively without  interference/modification of patient’s management by the study team.

Population:

The study population consists of individuals diagnosed with severe AATD, defined by an AAT serum level < 11 µM (50 mg/dl) and/or a proteinase inhibitor genotype of ZZ SZ or null heterozygotes or homozygotes (PI*)

Visit schedule and assessment:

At a baseline visit, patients will sign the informed consent form. Assessments at baseline and during the yearly follow-up visits include but are not limited to lung function testing (spirometry, body plethysmography, diffusion capacity), exercise capacity (6-mwt), blood tests, and questionnaires (Symptoms, QoL, physical activity).

Data review and database management

To ensure correct data collection, there will be designated investigator staff to document the data in the CRFs. All entered data will be reviewed by the EARCO database manager and corrected or completed accordingly.

Link to publication: ERJ Open Res. 2020 Mar 2;6(1):00181-2019. doi: 10.1183/23120541.00181-2019. eCollection 2020 Jan. PMID: 32154291

Link to website: www.earco.org