PMID- 36527073
OWN - NLM
STAT- MEDLINE
DCOM- 20221223
LR  - 20230221
IS  - 1465-993X (Electronic)
IS  - 1465-9921 (Print)
IS  - 1465-9921 (Linking)
VI  - 23
IP  - 1
DP  - 2022 Dec 16
TI  - Clinical and functional characteristics of individuals with alpha-1 antitrypsin 
      deficiency: EARCO international registry.
PG  - 352
LID - 10.1186/s12931-022-02275-4 [doi]
LID - 352
AB  - BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is 
      associated with an increased risk of pulmonary emphysema. The European AATD 
      Research Collaboration (EARCO) international registry was founded with the 
      objective of characterising the individuals with AATD and investigating their 
      natural history. METHODS: The EARCO registry is an international, observational 
      and prospective study of individuals with AATD, defined as AAT serum 
      levels < 11 muM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound 
      heterozygotes or homozygotes of other rare deficient variants. We describe the 
      characteristics of the individuals included from February 2020 to May 2022. 
      RESULTS: A total of 1044 individuals from 15 countries were analysed. The most 
      frequent genotype was PI*ZZ (60.2%), followed by PI*SZ (29.2%). Among PI*ZZ 
      patients, emphysema was the most frequent lung disease (57.2%) followed by COPD 
      (57.2%) and bronchiectasis (22%). Up to 76.4% had concordant values of FEV1(%) 
      and KCO(%). Those with impairment in FEV1(%) alone had more frequently 
      bronchiectasis and asthma and those with impairment in KCO(%) alone had more 
      frequent emphysema and liver disease. Multivariate analysis showed that advanced 
      age, male sex, exacerbations, increased blood platelets and neutrophils, 
      augmentation and lower AAT serum levels were associated with worse FEV1(%). 
      CONCLUSIONS: EARCO has recruited > 1000 individuals with AATD from 15 countries 
      in its first 2 years. Baseline cross sectional data provide relevant information 
      about the clinical phenotypes of the disease, the patterns of functional 
      impairment and factors associated with poor lung function. Trial registration 
      www. CLINICALTRIALS: gov (ID: NCT04180319).
CI  - (c) 2022. The Author(s).
FAU - Miravitlles, Marc
AU  - Miravitlles M
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall 
      d'Hebron 119-129, 08035, Barcelona, Spain. marcm@separ.es.
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain. marcm@separ.es.
FAU - Turner, Alice M
AU  - Turner AM
AD  - Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, 
      Birmingham, UK.
AD  - Institute of Applied Health Research, University of Birmingham, Birmingham, UK.
FAU - Torres-Duran, Maria
AU  - Torres-Duran M
AD  - Servicio de Neumologia. Hospital Alvaro Cunqueiro. NeumoVigo I+I Research Group, 
      IIS Galicia Sur, Vigo, Spain.
FAU - Tanash, Hanan
AU  - Tanash H
AD  - Department of Respiratory Medicine and Allergology, Skane University Hospital, 
      Lund University, Malmo, Sweden.
FAU - Rodriguez-Garcia, Carlota
AU  - Rodriguez-Garcia C
AD  - Servicio de Neumologia, Complejo Hospitalario Clinico-Universitario de Santiago, 
      Santiago de Compostela, Spain.
FAU - Lopez-Campos, Jose Luis
AU  - Lopez-Campos JL
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias (CIBERES), 
      Instituto de Salud Carlos III, Madrid, Spain.
AD  - Unidad Medico-Quirurgica de Enfermedades Respiratorias. Instituto de Biomedicina 
      de Sevilla (IBiS), Hospital Universitario Virgen del Rocio/Universidad de 
      Sevilla, Sevilla, Spain.
FAU - Chlumsky, Jan
AU  - Chlumsky J
AD  - Department of Pneumology, Thomayer Hospital, First Faculty of Medicine, Charles 
      University, Prague, Czech Republic.
FAU - Guimaraes, Catarina
AU  - Guimaraes C
AD  - Pulmonology Department, Hospital da Senhora da Oliveira, Guimaraes, Portugal.
FAU - Rodriguez-Hermosa, Juan Luis
AU  - Rodriguez-Hermosa JL
AD  - Servicio de Neumologia. Hospital Clinico de San Carlos. Departamento de Medicina, 
      Facultad de Medicina, , Universidad Complutense de Madrid, Madrid, Spain.
AD  - Research Institute of Hospital Clinico San Carlos (IdISSC), Madrid, Spain.
FAU - Corsico, Angelo
AU  - Corsico A
AD  - Pneumology Unit, IRCCS San Matteo Hospital Foundation, Pavia, Italy.
AD  - Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, 
      Italy.
FAU - Martinez-Gonzalez, Cristina
AU  - Martinez-Gonzalez C
AD  - Pneumology Department, Hospital Universitario Central de Asturias, Instituto de 
      Investigacion Sanitaria del Principado de Asturias, Oviedo, Spain.
FAU - Hernandez-Perez, Jose Maria
AU  - Hernandez-Perez JM
AD  - Pneumology Department, Hospital Universitario Nuestra Senora de La Candelaria, 
      Santa Cruz de Tenerife, Spain.
FAU - Bustamante, Ana
AU  - Bustamante A
AD  - Pneumology Section, Hospital Sierrallana-TresMares , Cantabria, Spain.
FAU - Parr, David G
AU  - Parr DG
AD  - Department of Respiratory Medicine, University Hospitals of Coventry and 
      Warwickshire, Clifford Bridge Road, Coventry, UK.
FAU - Casas-Maldonado, Francisco
AU  - Casas-Maldonado F
AD  - Servicio de Neumologia. Hospital Clinico Universitario San Cecilio. Departamento 
      de Medicina, Facultad de Medicina, Universidad de Granada, Granada, Spain.
FAU - Hecimovic, Ana
AU  - Hecimovic A
AD  - Clinic for Respiratory Diseases, University Hospital Center Zagreb, Zagreb, 
      Croatia.
AD  - School of Medicine, University of Zagreb, Zagreb, Croatia.
FAU - Janssens, Wim
AU  - Janssens W
AD  - Laboratory of Respiratory Diseases, Department of Chronic Disease, Metabolism and 
      Ageing, Katholieke Universiteit (KU) Leuven, Leuven, Belgium.
AD  - Department of Respiratory Diseases, University Hospitals Leuven, Leuven, Belgium.
FAU - Lara, Beatriz
AU  - Lara B
AD  - Department of Respiratory Medicine, University Hospitals of Coventry and 
      Warwickshire, Clifford Bridge Road, Coventry, UK.
FAU - Barrecheguren, Miriam
AU  - Barrecheguren M
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall 
      d'Hebron 119-129, 08035, Barcelona, Spain.
FAU - Gonzalez, Cruz
AU  - Gonzalez C
AD  - Servicio de Neumologia, Hospital Clinico Universitario de Valencia. Instituto de 
      Investigacion INCLIVA, Valencia, Spain.
FAU - Stolk, Jan
AU  - Stolk J
AD  - Department of Pulmonology, Leiden University Medical Center, Leiden, The 
      Netherlands.
FAU - Esquinas, Cristina
AU  - Esquinas C
AD  - Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d'Hebron 
      Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Passeig Vall 
      d'Hebron 119-129, 08035, Barcelona, Spain.
FAU - Clarenbach, Christian F
AU  - Clarenbach CF
AD  - Division of Pulmonology, University Hospital Zurich, Zurich, Switzerland.
LA  - eng
SI  - ClinicalTrials.gov/NCT04180319
PT  - Journal Article
PT  - Observational Study
DEP - 20221216
PL  - England
TA  - Respir Res
JT  - Respiratory research
JID - 101090633
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
EIN - Respir Res. 2023 Feb 18;24(1):57. PMID: 36800958
MH  - Humans
MH  - Male
MH  - alpha 1-Antitrypsin/genetics
MH  - *alpha 1-Antitrypsin Deficiency/diagnosis/epidemiology/genetics
MH  - *Bronchiectasis/diagnosis/epidemiology
MH  - Cross-Sectional Studies
MH  - Genotype
MH  - Prospective Studies
MH  - *Pulmonary Disease, Chronic Obstructive/genetics
MH  - *Pulmonary Emphysema/diagnosis/epidemiology/complications
MH  - Registries
PMC - PMC9756677
OTO - NOTNLM
OT  - Alpha-1 antitrypsin
OT  - Phenotypes
OT  - Registry
COIS- Marc Miravitlles has received speaker fees from AstraZeneca, Boehringer 
      Ingelheim, Kamada, Chiesi, Cipla, Menarini, Rovi, Bial, Sandoz, Takeda, Zambon, 
      CSL Behring, Specialty Therapeutics, Grifols and Novartis, consulting fees from 
      AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Bial, Gebro Pharma, 
      Kamada, CSL Behring, Laboratorios Esteve, Ferrer, Mereo Biopharma, Verona Pharma, 
      TEVA, Spin Therapeutics, pH Pharma, Novartis, Sanofi and Grifols and research 
      grants from Grifols. Alice M Turner has received either grants or speaker fees 
      from AstraZeneca, GlaxoSmithKline, Boehringer Ingelheim, Chiesi, CSL Behring, 
      Takeda, Vertex and Grifols Biotherapeutics. Maria Torres-Duran has received 
      speaker fees from Chiesi, CSL Behring, Grifols and Resmed and consulting fees 
      from CSL Behring and Grifols. Jose Luis Lopez-Campos has received honoraria 
      during the last 3 years for lecturing, scientific advice, participation in 
      clinical studies or writing for publications for (alphabetical order): 
      AstraZeneca, Boehringer Ingelheim, Chiesi, CSL Behring, Esteve, Ferrer, Gebro, 
      GlaxoSmithKline, Grifols, Menarini, Novartis, Rovi, and Teva. Juan Luis 
      Rodriguez-Hermosa has received speaker fees from Zambon, Bial, Gebro Pharma, 
      GlaxoSmithKline, Chiesi, Boehringer Ingelheim, CSL Behring and Grifols. Jose 
      Maria Hernandez-Perez has received speaker fees from Grifols, CSL Behring, 
      Astra-Zeneca, GSK, Bial laboratory, Teva laboratory, support for attending 
      meetings from Grifols, CSL Behring, and consulting fees from CSL Behring. David G 
      Parr has received consulting fees from Mereo Biopharma. Francisco Casas-Maldonado 
      has received speaker fees from AstraZeneca, Bial, Boehringer Ingelheim, Chiesi, 
      Gebro Pharma, GlaxoSmithKline, Laboratorios Esteve, Laboratorios Ferrer, 
      Menarini, Novartis, Rovi, TEVA, VERTEX, Zambon, CSL Behring and Grifols and 
      consulting fees from AstraZeneca, Chiesi, GlaxoSmithKline, CSL Behring and 
      Grifols. Miriam Barrecheguren has received speaker fees from Grifols, Menarini, 
      CSL Behring, GSK, Boehringer Ingelheim and consulting fees from GSK, Novartis, 
      CSL Behring and Boehringer Ingelheim. Ana Bustamante has received speaker fees 
      from Boehringer Ingelheim, AstraZeneca, GSK, Novartis and Ferrer, and funding for 
      traveling or attending meetings from CSL Behring, AstraZeneca and Chiesi. Cruz 
      Gonzalez has received speaker fees from, Menarini, GSK, Novartis, Boehringer 
      Ingelheim and Chiesi. Carlota Rodriguez has received speaker fees from GSK, 
      AstraZeneca, Grifols, Chiesi, Ferrer, Menarini and Boehringer Ingelheim, expert 
      testimony for Chiesi, support for attending meetings from FAES. Cristina Esquinas 
      has received speaker fees from CSL Behring. Christian F Clarenbach received 
      advisory fees from Roche, Novartis, Boehringer, GSK, Astra Zeneca, Sanofi, Vifor, 
      OM Pharma, CSL Behring, Grifols, Daiichi Sankyo and MSD. The remaining authors 
      report no conflicts of interest.
EDAT- 2022/12/17 06:00
MHDA- 2022/12/21 06:00
PMCR- 2022/12/16
CRDT- 2022/12/16 23:52
PHST- 2022/10/14 00:00 [received]
PHST- 2022/12/03 00:00 [accepted]
PHST- 2022/12/16 23:52 [entrez]
PHST- 2022/12/17 06:00 [pubmed]
PHST- 2022/12/21 06:00 [medline]
PHST- 2022/12/16 00:00 [pmc-release]
AID - 10.1186/s12931-022-02275-4 [pii]
AID - 2275 [pii]
AID - 10.1186/s12931-022-02275-4 [doi]
PST - epublish
SO  - Respir Res. 2022 Dec 16;23(1):352. doi: 10.1186/s12931-022-02275-4.