Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema

Not Applicable

Completed

• Conditions: Pulmonary Emphysema
• Interventions: Other: Blood sampling

• Registration Number: NCT02382367
• Lead Sponsor: Hospices Civils de Lyon

Brief Summary

The main objective of this trial is to evaluate the prevalence of alpha-1 antitrypsin quantitative and functional deficiency in an adult French population presenting with pulmonary emphysema. Phenotypic and genotypic studies will be carried whenever quantitative and/or functional deficiency will be displayed.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2014-12
• Study First Submitted: 2014-12-04
• Study First Submitted QC: 2015-03-02
• Study First Posted: 2015-03-06
• Status Verified: 2015-12
• Primary Completion: 2015-12
• Study Completion: 2015-12
• Last Update Submitted: 2015-12-04
• Last Update Posted: 2015-12-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 190

Inclusion Criteria

• Pulmonary emphysema highlighted by computed tomography
• Ratio Forced Expiratory Volume in 1 second (FEV1) / Vital Capacity (VC) < 70% measured by lung function test

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Exclusion Criteria

• Hepatic transplant
• Patient under legal protection
• Patient not benefiting from the French Health Insurance

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Pulmonary emphysema	Blood sampling	Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)

Primary Outcome Measures

Name	Time	Method
Number of patient with alpha-1 antitrypsin dysfunction	Samples for evaluation of alpha-1 antitrypsin dysfunction will be performed the day of the patient enrollment	Alpha-1 antitrypsin protein will be measured either on serum or plasma by standardized immunoassay. The elastase-inhibitory capacity of plasma will be evaluated by a functional test. The anti-elastase dysfunction of alpha-1 antitrypsin will be evaluated using both measurements.

Secondary Outcome Measures

Name	Time	Method
Molecular genotyping of gene coding alpha-1 antitrypsin	Samples for molecular genotyping will be performed the day of the patient enrollment	For those patients who presented with either a functional or a quantitative dysfunction, we will look for genetic mutations in the gene coding the alpha-1 antitrypsin allowing the identification of specific genotype such as MM, MZ, MS, SS and SZ
Determination of alpha-1 antitrypsin protein phenotype	Samples for phenotype analysis will be performed the day of the patient enrollment	The determination of the alpha-1 antitrypsin protein phenotype may highlight genotype variants. The different known phenotypes are: Pi MM, Pi Z; Pi S, Pi SS, Pi SZ, Pi ZZ.

Trial Locations

Locations (1)

Hôpital Louis Pradel - service de pneumologie; 🇫🇷 Bron, France