Pulmonary Emphysema
Conditions
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.
Interventions
OTHERBlood sampling
Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)
Sponsors
Hospices Civils de Lyon
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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 |
Countries
France
Outcome results
None listed