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Research Project

EARCO Registry

Principal Investigator:
Marc Miravitlles / Christian Clarenbach
Hospital Universitary Vall d’Hebron / University Hospital Zurich
Barcelona (Spain) / Zurich (Switzerland)
Start date:
Contact E-mail:
marcm@separ.es / Christian.Clarenbach@usz.ch
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Although tremendous improvements have been made in the understanding of the pathophysiology of the disease in recent years, many questions remain unanswered, and AATD poses several important challenges:

  • The natural history and prognosis of AATD patients is not well known, and there is a lack of prognostic tools to support medical decision making (early referral for a lung transplantation for instance).
  • Although the vast majority of patients with severe deficiency share the same genetic disorder (ZZ genotype), the prevalence and severity of liver and respiratory disease vary markedly. Genetic/environmental cofactors have been suspected, but the majority have yet to be identified.
  • Augmentation therapy has been shown to slow, but not stop, the progression of emphysema, as assessed by CT densitometry. However, its impact on FEV1, quality of life and mortality has not been definitively established. Consequently, augmentation therapy is not reimbursed in all European countries.
  • Most studies on AATD have focused on the ZZ population. The impact of other rarer variants on outcomes is unknown.

The answer to these questions requires the access to large cohorts of patients and cannot be addressed solely at individual country level. This was the main reason to initiate an European Alpha-1 Clinical Research Collaboration (EARCO). This will enable an international group of experienced researchers to answer fundamental questions about epidemiology, genetics, pathophysiology, clinical management and prognosis of lung disease associated with AATD. Furthermore, the initiative brings together multiple stakeholders including researchers, healthcare providers and patients with the aim of advancing understanding through clinical and scientific research and improving the quality of life of patients with the deficiency.

EARCO takes advantage of existing AATD registries that have been developed at the national level. Several countries have established registries in which AATD patients are included and followed-up with clinical and biological data collected. However, these registries differ in terms of inclusion criteria, data collected and frequency and extent of follow-up. Within EARCO, we will harmonize the data collection process and assess the quality of the data within a short time frame after the data are generated and entered into the database.

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  • To generate long-term, high-quality clinical data covering an international population of AATD individuals in all age groups and all stages of disease severity.
  • To understand the natural history and prognosis of AATD better with the goal to create and validate prognostic tools to support medical decision making.
  • To investigate the effect of augmentation therapy on the progression of emphysema and to examine its impact on clinical and functional outcomes, such as FEV1, quality of life and mortality in a “real-life” population
  • To learn more about the course of the disease in patients suffering from severe AATD with genotypes different from Pi*ZZ

Inclusion criteria

Inclusion Criteria

  • Diagnosed Alpha-1 antitrypsin deficiency, defined as
    • AAT serum level < 11 µM (50 mg/dl)


  • proteinase inhibitor genotypes ZZ, SZ, and compound heterozygotes or homozygotes of other rare deficient variants.

Exclusion Criteria

  • Patients unwilling or unable to participate in the study

Brief summary

The EARCO registry is a non-interventional, multi-centre, international, prospective, repetitive, observational cohort study enrolling patients with AATD (as confirmed by serum level and genotyping). Patients will be managed according to their local procedures and policies with no interference from the study team. Patients will give informed consent to participate, and participating investigators will collect data prospectively. The following domains are covered: demographics, proteinase inhibitor genotype and other laboratory analyses, comorbidities, lung function, transient elastography of the liver, exacerbations, quality of life (QoL), chest CT (if applicable), and treatment.

Visit schedule:

The informed consent form is signed at the baseline visit. All available information will be collected according to the CRF. Follow-up visits should be scheduled on a yearly basis (+/- 3 months) during a minimum of 4 years.