Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development

Abstract

In 1997, the World Health Organization recommended establishing an international registry of α1-antitrypsin deficiency. The objective of the present article is to describe the organisation of an international network of registries, the Alpha One International Registry (AIR), and the processes of enrolling and entering data.By the end of 2005, the registry included individuals from 21 countries (from four continents). The inclusion criterion was either phenotypes PiZZ, PiSZ or other severely deficient variants. Demographic and clinical information have been collected by a standardised questionnaire, translated for each country. Data are transferred to the AIR database at the Dept of Respiratory Medicine, University Hospital, Malmö, Sweden, either by e-mail orviatwo web-enabled questionnaires in HTML. All data are merged and checked for consistency and missing values.Collection of data started in 1999 and, by September 2005, data on 2,150 individual patients (1,180 male) had been submitted. Of these, 1,855 (84%) have phenotype PiZ, 181 (8%) PiSZ and 114 (5%) other rare Pi phenotypes. The mean age at inclusion was 49.8 yrs (sd = 13.3) and the majority were index cases (64.1%).The Alpha One International Registry is the largest specific α1-antitrypsin deficiency registry, fulfilling a major World Health Organization recommendation. The success related to the convergence of national registries into a common database creating a unique registry beyond geographic boundaries and encompassing α1-antitrypsin deficiency from various ethnic groups.

Clinical phenotypes of Italian and Spanish patients with α1-antitrypsin deficiency

“…However, if one unusually positive study is discounted [36], no increased risk was observed. In an attempt to investigate their natural history, the AIR also included Pi*SZ individuals [11]. We observed that PI*SZ subjects had more preserved lung function, despite a higher mean smoking consumption, which is in agreement with previous studies describing less emphysema on CT scans and less abnormal respiratory physiology test results in PI*SZ compared with matched subjects with PI*ZZ [37].…”

“…In this study, we compared the characteristics of Spanish and Italian patients included in their national registries. Since both registries are included in the AIR [11], they share the same database, thereby allowing direct comparisons of data and pooling of data for further analysis.…”

“…The severity of COPD was based on the GOLD spirometric severity criteria [11]: I (mild) FEV1 o80% predicted; II (moderate) FEV1 o50-80% pred; III (severe) FEV1 o30-50% pred; and IV (very severe) FEV1 ,30% pred. For the objectives of the analysis, all patients with a clinical diagnosis of COPD, emphysema or chronic bronchitis by the attending physician were also included in the mildest category, even if spirometry did not show airflow obstruction.…”

“…After a World Health Organization meeting [10] in 1997, the Alpha One International Registry (AIR) was founded in order to establish an international patient database and to encourage research and promote knowledge of the disease [11]. Despite the improvements achieved since then, the diagnosis of AATD is often delayed [12] and this time lag may affect the prognosis of affected individuals.…”

SERPINA1 Gene Variants in Individuals from the General Population with Reduced α1-Antitrypsin Concentrations

“…In a recently published paper from the A.I.R. (AlphaOne International Registry), which includes data from 4 continents and 21 countries, predominantly in Europe, the frequency of rare AATD variants was 4.7% (updated March 2006) (22 ). Among heterozygous carriers in Italy only, the updated rare AATD allele frequency is 9.2% of all AATD deficiency alleles (16 ).…”