Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema (DysA)
Primary Purpose
Pulmonary Emphysema
Status
Completed
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Blood sampling
Sponsored by
About this trial
This is an interventional diagnostic trial for Pulmonary Emphysema
Eligibility Criteria
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
Exclusion Criteria:
- Hepatic transplant
- Patient under legal protection
- Patient not benefiting from the French Health Insurance
Sites / Locations
- Hôpital Louis Pradel - service de pneumologie
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Pulmonary emphysema
Arm Description
Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)
Outcomes
Primary Outcome Measures
Number of patient with alpha-1 antitrypsin dysfunction
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
Determination of alpha-1 antitrypsin protein phenotype
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.
Molecular genotyping of gene coding alpha-1 antitrypsin
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
Full Information
NCT ID
NCT02382367
First Posted
December 4, 2014
Last Updated
December 4, 2015
Sponsor
Hospices Civils de Lyon
1. Study Identification
Unique Protocol Identification Number
NCT02382367
Brief Title
Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema
Acronym
DysA
Study Type
Interventional
2. Study Status
Record Verification Date
December 2015
Overall Recruitment Status
Completed
Study Start Date
December 2014 (undefined)
Primary Completion Date
December 2015 (Actual)
Study Completion Date
December 2015 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Hospices Civils de Lyon
4. Oversight
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Pulmonary Emphysema
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
190 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Pulmonary emphysema
Arm Type
Experimental
Arm Description
Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)
Intervention Type
Other
Intervention Name(s)
Blood sampling
Intervention Description
Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)
Primary Outcome Measure Information:
Title
Number of patient with alpha-1 antitrypsin dysfunction
Description
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.
Time Frame
Samples for evaluation of alpha-1 antitrypsin dysfunction will be performed the day of the patient enrollment
Secondary Outcome Measure Information:
Title
Determination of alpha-1 antitrypsin protein phenotype
Description
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.
Time Frame
Samples for phenotype analysis will be performed the day of the patient enrollment
Title
Molecular genotyping of gene coding alpha-1 antitrypsin
Description
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
Time Frame
Samples for molecular genotyping will be performed the day of the patient enrollment
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
80 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Exclusion Criteria:
Hepatic transplant
Patient under legal protection
Patient not benefiting from the French Health Insurance
Facility Information:
Facility Name
Hôpital Louis Pradel - service de pneumologie
City
Bron
ZIP/Postal Code
69677
Country
France
12. IPD Sharing Statement
Learn more about this trial
Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema
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