Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema (DysA)

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.

Study Overview

• Status: Completed
• Conditions: Pulmonary Emphysema
• Intervention / Treatment: Other: Blood sampling

• Study Type: Interventional
• Enrollment (Actual): 190
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Bron, France, 69677
    • Hôpital Louis Pradel - service de pneumologie

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Pulmonary emphysema; Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)	Other: Blood sampling; Blood tests (Alpha-1 antitrypsin protein measurement, elastase-inhibitory capacity of plasma measurement, phenotypic and genotypic studies)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Samples for evaluation of alpha-1 antitrypsin dysfunction will be performed the day of the patient enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	Samples for phenotype analysis will be performed the day of the patient enrollment
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	Samples for molecular genotyping will be performed the day of the patient enrollment

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start: December 1, 2014
• Primary Completion (Actual): December 1, 2015
• Study Completion (Actual): December 1, 2015

Study Registration Dates

• First Submitted: December 4, 2014
• First Submitted That Met QC Criteria: March 2, 2015
• First Posted (Estimate): March 6, 2015

Study Record Updates

• Last Update Posted (Estimate): December 7, 2015
• Last Update Submitted That Met QC Criteria: December 4, 2015
• Last Verified: December 1, 2015

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Lung Diseases, Obstructive; Pulmonary Disease, Chronic Obstructive; Pulmonary Emphysema; Emphysema
• Other Study ID Numbers: 2013.835