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Alpha-1 Carrier Genomics Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02810327
Recruitment Status : Completed
First Posted : June 22, 2016
Results First Posted : July 22, 2019
Last Update Posted : July 22, 2019
Sponsor:
Collaborator:
CSL Behring
Information provided by (Responsible Party):
Medical University of South Carolina

Study Type Observational
Study Design Observational Model: Case-Control;   Time Perspective: Cross-Sectional
Conditions Alpha-1 Antitrypsin Deficiency
Emphysema
COPD
Smoking
Intervention Genetic: Genetic Sequencing
Enrollment 117
Recruitment Details  
Pre-assignment Details  
Arm/Group Title MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Hide Arm/Group Description

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort do not have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Period Title: Overall Study
Started 76 41
Completed 69 34
Not Completed 7 7
Arm/Group Title MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD Total
Hide Arm/Group Description

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort do not have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Total of all reporting groups
Overall Number of Baseline Participants 76 41 117
Hide Baseline Analysis Population Description
Individuals age 18 and over with previous MZ results for Alpha-1 antitrypsin deficiency and AAT level in the lower MZ quartile (<16uM).
Age, Continuous   [1] 
Mean (Full Range)
Unit of measure:  Years
Age Number Analyzed 69 participants 34 participants 103 participants
51.7
(18 to 73)
52.8
(29 to 70)
52
(18 to 73)
[1]
Measure Analysis Population Description: 14 consented participants did not return their test kits and/or questionnaires.
Sex: Female, Male   [1] 
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 69 participants 34 participants 103 participants
Female
50
  72.5%
28
  82.4%
78
  75.7%
Male
19
  27.5%
6
  17.6%
25
  24.3%
[1]
Measure Analysis Population Description: 14 consented participants did not return their test kits and/or questionnaires.
Race (NIH/OMB)   [1] 
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 69 participants 34 participants 103 participants
American Indian or Alaska Native
0
   0.0%
0
   0.0%
0
   0.0%
Asian
0
   0.0%
0
   0.0%
0
   0.0%
Native Hawaiian or Other Pacific Islander
0
   0.0%
0
   0.0%
0
   0.0%
Black or African American
1
   1.4%
0
   0.0%
1
   1.0%
White
68
  98.6%
34
 100.0%
102
  99.0%
More than one race
0
   0.0%
0
   0.0%
0
   0.0%
Unknown or Not Reported
0
   0.0%
0
   0.0%
0
   0.0%
[1]
Measure Analysis Population Description: 14 consented participants did not return their test kits and/or questionnaires.
1.Primary Outcome
Title Number of Participants With Abnormal Sequences in SERPINA1 Genes
Hide Description Additional SERPINA1 variant of known or possible significance detected by next generation sequencing.
Time Frame End of study NGS Result
Hide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Hide Arm/Group Description:

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort do not have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Overall Number of Participants Analyzed 69 34
Overall Number of Units Analyzed
Type of Units Analyzed: Samples
69 34
Measure Type: Number
Unit of Measure: participants
6 0
Hide Statistical Analysis 1
Statistical Analysis Overview Comparison Group Selection MZ Heterozygote With Symptoms of COPD, MZ Heterozygote Without Symptoms of COPD
Comments The MUSC Bioinformatics Core analyzed group genomic data for variant association with COPD severity score, including single variant association or type of variant association with symptoms. Descriptive statistical analysis was performed using statistical package SAS 9.4 for Windows (SAS Institute Inc., Cary, NC, USA).
Type of Statistical Test Other
Comments [Not Specified]
Statistical Test of Hypothesis P-Value 0.054
Comments [Not Specified]
Method Wilcoxon (Mann-Whitney)
Comments [Not Specified]
Time Frame 1 year, 1 month
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Hide Arm/Group Description

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

Individuals who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results. Individuals in this cohort do not have symptoms or clinical diagnosis of COPD.

Genetic Sequencing: Sequencing of the SERPINA1 gene

All-Cause Mortality
MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Affected / at Risk (%) Affected / at Risk (%)
Total   0/76 (0.00%)   0/41 (0.00%) 
Hide Serious Adverse Events
MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Affected / at Risk (%) Affected / at Risk (%)
Total   0/76 (0.00%)   0/41 (0.00%) 
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
MZ Heterozygote With Symptoms of COPD MZ Heterozygote Without Symptoms of COPD
Affected / at Risk (%) Affected / at Risk (%)
Total   0/76 (0.00%)   0/41 (0.00%) 
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Kimberly Brown Foil
Organization: Medical University of South Carolina
Phone: 843-792-6474
EMail: foilk@musc.edu
Layout table for additonal information
Responsible Party: Medical University of South Carolina
ClinicalTrials.gov Identifier: NCT02810327    
Other Study ID Numbers: Pro00036911
First Submitted: June 20, 2016
First Posted: June 22, 2016
Results First Submitted: August 1, 2018
Results First Posted: July 22, 2019
Last Update Posted: July 22, 2019