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

Stockley, Robert A.; Luisetti, Maurizio; Miravitlles, Marc; Piitulainen, Eeva; Fernández, Pérez

doi:10.1183/09031936.00053606

Cited by 81 publications

(56 citation statements)

References 13 publications

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“…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].…”

Section: Discussionsupporting

confidence: 78%

“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Data Management and Definitionsmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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With the aim of providing better clinical characterisation of patients with a 1 -antitrypsin deficiency (AATD), we analysed the data of adult patients with severe AATD enrolled in the Spanish and Italian national registries.We assessed 745 subjects, 416 of whom were enrolled in the Spanish registry and 329 in the Italian registry. 57.2% were male and 64.9% were smokers or former smokers with a mean¡SD age of 49.9¡13.8 years. Most (81.2%) were index cases, mainly having the PI*ZZ genotype (73.4%), and the mean¡SD diagnostic delay was 9.0¡12.1 years.Patients with chronic bronchitis were younger, had better preserved lung function and lower tobacco consumption. Overlap patients (chronic obstructive pulmonary disease with asthma) were mainly females, more frequently never-smokers and received respiratory medications more often. 48% of emphysema, 27.5% of chronic bronchitis and 44.8% of overlap subjects were receiving augmentation therapy. Compared with PI*ZZ patients (n5547), the PI*SZ (n5124) subjects were older at diagnosis and had more preserved lung function, despite a higher mean smoking consumption.Early diagnosis of AATD is still an unmet need. Augmentation therapy is administered to similar proportions of patients with different clinical phenotypes. PI*ZZ patients in both registries had more severe respiratory disease than those with PI*SZ, despite lower smoking levels. @ERSpublications New characterisation of clinical phenotypes in patients with alpha-1 antitrypsin deficiency

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Data Management and Definitionsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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“…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 ).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2008

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the SAPALDIA Team BACKGROUND: Individuals with severe deficiency in serum ␣ 1 -antitrypsin (AAT) concentrations are at high risk for developing chronic obstructive pulmonary disease (COPD), whereas those carrying the PI*MZ genotype are at slightly increased risk. Testing appropriate subgroups of the population for AAT deficiency (AATD) is therefore an important aspect of COPD prevention and timely treatment. We decided to perform an exhaustive investigation of SERPINA1 gene variants in individuals from the general population with a moderately reduced serum AAT concentration, because such information is currently unavailable.

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Establishment of a web‐based registry for rare (orphan) pediatric lung diseases in the United Kingdom: The BPOLD registry

Laverty

Jaffé

Cunningham

2008

Pediatric Pulmonology

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We have demonstrated the successful establishment of a low cost, web-based registry for children with rare lung diseases. There is an urgent need for European and International collaboration with the establishment of electronic registries for children with rare diseases, if the inequities of health care are to be addressed. A web-based approach, similar to the one we have developed, will enable this.

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

Cited by 81 publications

References 13 publications

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

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

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

Establishment of a web‐based registry for rare (orphan) pediatric lung diseases in the United Kingdom: The BPOLD registry

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

Cited by 81 publications

References 13 publications

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

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

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

Establishment of a web‐based registry for rare (orphan) pediatric lung diseases in the United Kingdom: The BPOLD registry

Contact Info

Product

Resources

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

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