Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry
Severe PI*Mmalton patients exhibit clinical and functional similarities to PI*ZZ individuals, suggesting a comparable disease burden. Moderate PI*Mmalton patients, however, show milder impairment. These findings reinforce the need for genotype-specific management strategies and suggest that PI*Mmalton carriers, particularly those with severe variants, should be considered in future clinical trials.
Authors
- Carlota Rodríguez‐García
- María Torres‐Durán (ORCID: https://orcid.org/0000-0001-6710-3766)
- Hanan A. Tanash (ORCID: https://orcid.org/0000-0002-0913-2347)
- José Luís López-Campos (ORCID: https://orcid.org/0000-0003-1703-1367)
- Kenneth R. Chapman (ORCID: https://orcid.org/0000-0002-2498-9859)
- Angelo Guido Corsico (ORCID: https://orcid.org/0000-0002-8716-4694)
- Beatriz Ferraz (ORCID: https://orcid.org/0000-0002-7112-7717)
- Jens‐Ulrik Stæhr Jensen (ORCID: https://orcid.org/0000-0003-4036-0521)
- José María Hernández Pérez (ORCID: https://orcid.org/0000-0002-2920-212X)
- Margarida Fonseca Cardoso (ORCID: https://orcid.org/0000-0003-0042-5853)
- Beatriz Lara (ORCID: https://orcid.org/0000-0003-0090-8206)
- Alice Margaret Turner (ORCID: https://orcid.org/0000-0002-5947-3254)
- Joana Gomes (ORCID: https://orcid.org/0000-0001-6859-2557)
- Marc Miravitlles (ORCID: https://orcid.org/0000-0002-9850-9520)
- Christian Friedrich Clarenbach (ORCID: https://orcid.org/0000-0003-2158-2321)
- Maria Sucena (ORCID: https://orcid.org/0000-0002-0115-7080)
Institutions
- University of Copenhagen (DK)
- University Hospitals Birmingham NHS Foundation Trust (GB)
- University Health Network (CA)
- Universidade do Porto (PT)
- University of Toronto (CA)
- Lund University (SE)
- University of Pavia (IT)
- Instituto de Salud Carlos III (ES)
- University Hospital Complex Of Vigo (ES)
- Gentofte Hospital (DK)
- University Hospitals Coventry and Warwickshire NHS Trust (GB)
- Hospital Universitario Nuestra Señora de Candelaria (ES)
- Complejo Hospitalario Universitario de Santiago (ES)
- Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (ES)
- University Hospital of Zurich (CH)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Hospital de Santo António (PT)
- Instituto de Biomedicina de Sevilla (ES)
- Skåne University Hospital (SE)
- Instituto de Investigación Sanitaria de Santiago (ES)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Hospital Universitario Virgen del Rocío (ES)
- University of Birmingham (GB)
Publication Details
- Journal
- BMC Pulmonary Medicine
- Published
- 2025-04-23
- DOI
- https://doi.org/10.1186/s12890-025-03651-8
- Primary Topic
- Protease and Inhibitor Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi
- CSL Behring
- European Respiratory Society
- Grifols