Alpha 1-Antitrypsin DeficiencyEARCONCT04180319
EARCO REGISTRY. History Of Patients With Alpha-1 Antitrypsin
An observational study of Alpha 1-Antitrypsin Deficiency, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
Trial summary
European Alpha-1 Research Collaboration (EARCO) is a pan-European network committed to promoting clinical research and education in alpha-1 antitrypsin deficiency (AATD). The core project is the pan-European AATD Registry, a collaboration which will offer longitudinal real-world data for patients with AATD. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Alpha 1-Antitrypsin Deficiency
- How many people
- 3,000 participants
- Where
- 1 siteSpain
- Study dates
- 5 Feb 2020to 5 Feb 2025
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population will consist of individuals with diagnosed severe alpha-1 antitrypsin deficiency regardless of the clinical expression and severity. We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC.
Who may be able to join
- Diagnosed Alpha-1 antitrypsin deficiency, defined as
- AAT serum level < 11 µM (50 mg/dl) and/or
- proteinase inhibitor genotypes ZZ, SZ, and compound heterozygotes or homozygotes of other rare deficient variants.
Who cannot join
- Patients unwilling or unable to participate in the study
Trial locations and contacts
1 site in 1 country.
Spain1 site, 1 recruiting
- Recruiting
Marc Miravitlles
Barcelona, 08035
Marc Miravitlles, MD -PhD, +34932746107, marcm@separ.es
Eduardo Loeb, MD, +34932746107, eloebm@gmail.com
About this study
Official title: A Pan-European Multi-Centre Observational Study To Determine The Natural History Of Patients With Alpha-1 Antitrypsin
European Alpha-1 Research Collaboration (EARCO) is a pan-European network committed to promoting clinical research and education in alpha-1 antitrypsin deficiency (AATD). The core project is the pan-European AATD Registry, a collaboration which will offer longitudinal real-world data for patients with AATD. EARCO has a global vision to increase the early diagnosis of alpha-1 antitrypsin deficiency (AATD), understand better the natural history of the disease and ensure optimal access to effective care, placing emphasis on ambitions that serve collective needs of the AATD research community and bringing people with AAT deficiency to the centre of the research environment in a real-world context.
The study population will consist of individuals with diagnosed severe alpha-1 antitrypsin deficiency regardless of the clinical expression and severity.
Read more
The study objectives are:
- To generate long-term, high-quality clinical data covering a pan-European 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 We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up.
We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. .
Read the detailed description
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.
We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. .
The study objectives are:
- To generate long-term, high-quality clinical data covering a pan-European 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
Study design:
The EARCO registry is a non-interventional, multi-centre, pan-European, 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.
The study protocol was reviewed by the Research Ethics Committee of the Vall d'Hebron University Hospital of Barcelona, Spain, and the study is sponsored by Vall d'Hebron Research Institute, Barcelona, Spain. The study website will be located at www.AATD.eu. The registry was developed according to recommendations on the design, implementation, governance and long-term sustainability of disease registries in the European Union (EU). It is funded as a clinical research collaboration (CRC) under the umbrella of the European Respiratory Society (ERS). Clinical Research Collaborations (CRCs) are pan-European, multi-centre networks of principal investigators aiming to advance science and clinical research within a specific disease area (www.ersnet.org/ers-funding/clinical-research-collaboration.html). The European Alpha-1 Clinical Research Collaboration (EARCO) was established as an ERS CRC with the objective of developing a European AATD Registry and bringing researchers together internationally to promote clinical research, clinical care and education.
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Keywords
- Natural History, Epidemiology, Registry, alpha 1-Antitrypsin Deficiency
- Medical subject headings
- alpha 1-Antitrypsin Deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Evolution of lung function The Natural History Of Patients With Alpha-1 Antitrypsin Deficiency
Annual measurement of forced expiratory volume in the first second (FEV1) in liters
Measured: 5 years
Mortality
Mortality during the duration of the study
Measured: 5 years
Evolution of respiratory specific health related quaility of life
Annual measurements of COPD Assessment Test (CAT) (scale 0 to 40 points)
Measured: 5 years
Evolution of generic health related quaility of life
Annual measurement of EQ-5D
Measured: 5 years
Secondary outcomes (2)
Incidence of liver disease
Alterations in liver enzymes and/or liver imaging tests during follow-up
Measured: 5 years
Evolution of respiratory symptoms
identification of respìratory symptoms during follow-up
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Nov 2019
- Study start5 Feb 2020
- Primary completion5 Feb 2021 (estimated)
- Study completion5 Feb 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Alpha 1-Antitrypsin DeficiencyStudies of the same condition, open and under way.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- European Respiratory Society
- Responsible party
- Sponsor
- Investigators
- MARC MIRAVITLLES, MD-PhD, Principal investigator, Hospital Vall d'HebronTimm Greulich, MD-PhD, Principal investigator, University Medical Centre Giessen and Marburg, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04180319
- Sponsor's protocol ID
- EARCO
- Acronym
- EARCO
- Status last verified
- Nov 2019
- First submitted
- 4 Sep 2019
- Last updated
- 7 Feb 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, McElvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley RA. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha1-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610. doi: 10.1183/13993003.00610-2017. Print 2017 Nov.
PubMed 29191952Miravitlles M, Chorostowska-Wynimko J, Ferrarotti I, McElvaney NG, O'Hara K, Stolk J, Stockley RA, Turner A, Wilkens M, Greulich T; EARCO Clinical Research Collaboration; Members of the EARCO Clinical Research Collaboration. The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. Eur Respir J. 2019 Feb 14;53(2):1900138. doi: 10.1183/13993003.00138-2019. Print 2019 Feb. No abstract available.
PubMed 30765486Villar-Aguilar L, Casal-Guisande M, Fernandez-Villar A, Garcia-Rodriguez E, Priegue-Carrera A, Miravitlles M, Torres-Duran M. Characterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools. Respir Med. 2025 Oct;247:108278. doi: 10.1016/j.rmed.2025.108278. Epub 2025 Jul 29.
PubMed 40744282Martin T, Guimaraes C, Esquinas C, Torres-Duran M, Turner AM, Tanash H, Rodriguez-Garcia C, Corsico A, Lopez-Campos JL, Bartosovska E, Staehr Jensen JU, Hernandez-Perez JM, Sucena M, Miravitlles M. Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project. Respir Res. 2024 Jun 26;25(1):260. doi: 10.1186/s12931-024-02879-y.
PubMed 38926693Miravitlles M, Turner AM, Torres-Duran M, Tanash H, Rodriguez-Garcia C, Lopez-Campos JL, Chlumsky J, Guimaraes C, Rodriguez-Hermosa JL, Corsico A, Martinez-Gonzalez C, Hernandez-Perez JM, Bustamante A, Parr DG, Casas-Maldonado F, Hecimovic A, Janssens W, Lara B, Barrecheguren M, Gonzalez C, Stolk J, Esquinas C, Clarenbach CF. Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. Respir Res. 2022 Dec 16;23(1):352. doi: 10.1186/s12931-022-02275-4.
PubMed 36527073
Study at a glance
From the registry record, last updated by the sponsor on 7 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Pan-European Multi-Centre Observational Study To Determine The Natural History Of Patients With Alpha-1 Antitrypsin
- ClinicalTrials.gov ID
- NCT04180319
- Acronym / sponsor ID
- EARCO / EARCO
- Conditions
- Alpha 1-Antitrypsin Deficiency
- Keywords
- Natural History, Epidemiology, Registry, alpha 1-Antitrypsin Deficiency
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- European Respiratory Society
- Study start
- 5 Feb 2020 (actual)
- Primary completion
- 5 Feb 2021 (estimated)
- Study completion
- 5 Feb 2025 (estimated)
- First posted
- 27 Nov 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
European Alpha-1 Research Collaboration (EARCO) is a pan-European network committed to promoting clinical research and education in alpha-1 antitrypsin deficiency (AATD). The core project is the pan-European AATD Registry, a collaboration which will offer longitudinal real-world data for patients with AATD. EARCO has a global vision to increase the early diagnosis of alpha-1 antitrypsin deficiency (AATD), understand better the natural history of the disease and ensure optimal access to effective care, placing emphasis on ambitions that serve collective needs of the AATD research community and bringing people with AAT deficiency to the centre of the research environment in a real-world context.
The study population will consist of individuals with diagnosed severe alpha-1 antitrypsin deficiency regardless of the clinical expression and severity.
The study objectives are:
- To generate long-term, high-quality clinical data covering a pan-European 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 We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up.
We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. .
Detailed description
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.
We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC and continue a long term follow-up. .
The study objectives are:
- To generate long-term, high-quality clinical data covering a pan-European 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
Study design:
The EARCO registry is a non-interventional, multi-centre, pan-European, 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.
The study protocol was reviewed by the Research Ethics Committee of the Vall d'Hebron University Hospital of Barcelona, Spain, and the study is sponsored by Vall d'Hebron Research Institute, Barcelona, Spain. The study website will be located at www.AATD.eu. The registry was developed according to recommendations on the design, implementation, governance and long-term sustainability of disease registries in the European Union (EU). It is funded as a clinical research collaboration (CRC) under the umbrella of the European Respiratory Society (ERS). Clinical Research Collaborations (CRCs) are pan-European, multi-centre networks of principal investigators aiming to advance science and clinical research within a specific disease area (www.ersnet.org/ers-funding/clinical-research-collaboration.html). The European Alpha-1 Clinical Research Collaboration (EARCO) was established as an ERS CRC with the objective of developing a European AATD Registry and bringing researchers together internationally to promote clinical research, clinical care and education.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population will consist of individuals with diagnosed severe alpha-1 antitrypsin deficiency regardless of the clinical expression and severity. We expect to collect detailed information from around 1,000 patients from at least 10 countries during the first year, expanding to 3,000 from more than 25 countries over the 5 years of the CRC.
Key inclusion criteria (3 listed)
- Diagnosed Alpha-1 antitrypsin deficiency, defined as
Key exclusion criteria (1 listed)
- Patients unwilling or unable to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Evolution of lung function The Natural History Of Patients With Alpha-1 Antitrypsin Deficiency
Time frame: 5 years
Annual measurement of forced expiratory volume in the first second (FEV1) in liters
Mortality
Time frame: 5 years
Mortality during the duration of the study
Evolution of respiratory specific health related quaility of life
Time frame: 5 years
Annual measurements of COPD Assessment Test (CAT) (scale 0 to 40 points)
Evolution of generic health related quaility of life
Time frame: 5 years
Annual measurement of EQ-5D
2 secondary outcomes
Incidence of liver disease
Time frame: 5 years
Evolution of respiratory symptoms
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Feb 2020.
- Background: PubMed 29191952Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R, McElvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley RA. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha1-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610. doi: 10.1183/13993003.00610-2017. Print 2017 Nov.
- Background: PubMed 30765486Miravitlles M, Chorostowska-Wynimko J, Ferrarotti I, McElvaney NG, O'Hara K, Stolk J, Stockley RA, Turner A, Wilkens M, Greulich T; EARCO Clinical Research Collaboration; Members of the EARCO Clinical Research Collaboration. The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. Eur Respir J. 2019 Feb 14;53(2):1900138. doi: 10.1183/13993003.00138-2019. Print 2019 Feb. No abstract available.
- Derived from this study: PubMed 40744282Villar-Aguilar L, Casal-Guisande M, Fernandez-Villar A, Garcia-Rodriguez E, Priegue-Carrera A, Miravitlles M, Torres-Duran M. Characterisation of patients with Alpha-1 antitrypsin deficiency using unsupervised machine learning tools. Respir Med. 2025 Oct;247:108278. doi: 10.1016/j.rmed.2025.108278. Epub 2025 Jul 29.
- Derived from this study: PubMed 38926693Martin T, Guimaraes C, Esquinas C, Torres-Duran M, Turner AM, Tanash H, Rodriguez-Garcia C, Corsico A, Lopez-Campos JL, Bartosovska E, Staehr Jensen JU, Hernandez-Perez JM, Sucena M, Miravitlles M. Risk of lung disease in the PI*SS genotype of alpha-1 antitrypsin: an EARCO research project. Respir Res. 2024 Jun 26;25(1):260. doi: 10.1186/s12931-024-02879-y.
- Derived from this study: PubMed 36527073Miravitlles M, Turner AM, Torres-Duran M, Tanash H, Rodriguez-Garcia C, Lopez-Campos JL, Chlumsky J, Guimaraes C, Rodriguez-Hermosa JL, Corsico A, Martinez-Gonzalez C, Hernandez-Perez JM, Bustamante A, Parr DG, Casas-Maldonado F, Hecimovic A, Janssens W, Lara B, Barrecheguren M, Gonzalez C, Stolk J, Esquinas C, Clarenbach CF. Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. Respir Res. 2022 Dec 16;23(1):352. doi: 10.1186/s12931-022-02275-4.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
MARC MIRAVITLLES, MD-PhD principal investigator
Hospital Vall d'Hebron
Timm Greulich, MD-PhD principal investigator
University Medical Centre Giessen and Marburg, Germany
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha 1-Antitrypsin Deficiency, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 7 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact MARC MIRAVITLLES, MD-PhD (34932746107, marcm@separ.es), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evolution of lung function The Natural History Of Patients With Alpha-1 Antitrypsin Deficiency (time frame: 5 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04180319, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Feb 2020.