EARCO REGISTRY. History Of Patients With Alpha-1 Antitrypsin

NCT04180319 | Unknown

• 1 other identifier: EARCO
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

Brief 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. 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. .

Conditions

Alpha 1-Antitrypsin Deficiency

Keywords

Natural History; Epidemiology; Registry; alpha 1-Antitrypsin Deficiency

Outcome Measures

Primary Outcomes (4)

• 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

  5 years

• Mortality

  Mortality during the duration of the study

  5 years

• Evolution of respiratory specific health related quaility of life

  Annual measurements of COPD Assessment Test (CAT) (scale 0 to 40 points)

  5 years

• Evolution of generic health related quaility of life

  Annual measurement of EQ-5D

  5 years

Secondary Outcomes (2)

• Incidence of liver disease

  5 years

• Evolution of respiratory symptoms

  5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

• Patients unwilling or unable to participate in the study

Sponsors & Collaborators

• Hospital Universitari Vall d'Hebron Research Institute: lead
• European Respiratory Society: collaborator

Study Sites (1)

Marc Miravitlles

Barcelona, 08035, Spain

RECRUITING

Related Publications (4)

• 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.

  PMID: 29191952 BACKGROUND

• Miravitlles 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.

  PMID: 30765486 BACKGROUND

• Martin 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.

  PMID: 38926693 DERIVED

• Miravitlles 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.

  PMID: 36527073 DERIVED

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• MARC MIRAVITLLES, MD-PhD

  Hospital Vall d'Hebron

  PRINCIPAL INVESTIGATOR

• Timm Greulich, MD-PhD

  University Medical Centre Giessen and Marburg, Germany

  PRINCIPAL INVESTIGATOR

Central Study Contacts

MARC MIRAVITLLES, MD-PhD

CONTACT

34932746107; marcm@separ.es

EDUARDO LOEB, MD

CONTACT

34932746107; eduardo.loeb@vhir.org

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 4, 2019
• First Posted: November 27, 2019
• Study Start: February 5, 2020
• Primary Completion: February 5, 2021
• Study Completion: February 5, 2025
• Last Updated: February 7, 2020

Record last verified: 2019-11

Locations

ES (1)