Trial Outcomes & Findings for Alpha-1 Carrier Genomics Study (NCT NCT02810327)
NCT ID: NCT02810327
Last Updated: 2019-07-22
Results Overview
Additional SERPINA1 variant of known or possible significance detected by next generation sequencing.
Recruitment status
COMPLETED
Target enrollment
117 participants
Primary outcome timeframe
End of study NGS Result
Results posted on
2019-07-22
Participant Flow
Participant milestones
| Measure |
MZ Heterozygote With Symptoms of COPD
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
|
MZ Heterozygote Without Symptoms of COPD
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 Study
STARTED
|
76
|
41
|
|
Overall Study
COMPLETED
|
69
|
34
|
|
Overall Study
NOT COMPLETED
|
7
|
7
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
14 consented participants did not return their test kits and/or questionnaires.
Baseline characteristics by cohort
| Measure |
MZ Heterozygote With Symptoms of COPD
n=76 Participants
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
|
MZ Heterozygote Without Symptoms of COPD
n=41 Participants
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
n=117 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Continuous
Age
|
51.7 years
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
52.8 years
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
52 years
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Sex: Female, Male
Female
|
50 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
28 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
78 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Sex: Female, Male
Male
|
19 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
6 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
25 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
Asian
|
0 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
Black or African American
|
1 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
1 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
White
|
68 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
34 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
102 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=69 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=34 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
0 Participants
n=103 Participants • 14 consented participants did not return their test kits and/or questionnaires.
|
PRIMARY outcome
Timeframe: End of study NGS ResultAdditional SERPINA1 variant of known or possible significance detected by next generation sequencing.
Outcome measures
| Measure |
MZ Heterozygote With Symptoms of COPD
n=69 samples
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
|
MZ Heterozygote Without Symptoms of COPD
n=34 samples
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
|
|---|---|---|
|
Number of Participants With Abnormal Sequences in SERPINA1 Genes
|
6 participants
|
0 participants
|
Adverse Events
MZ Heterozygote With Symptoms of COPD
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
MZ Heterozygote Without Symptoms of COPD
Serious events: 0 serious events
Other events: 0 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Kimberly Brown Foil
Medical University of South Carolina
Phone: 843-792-6474
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place