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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

Tracking Information
First Submitted Date June 20, 2016
First Posted Date June 22, 2016
Results First Submitted Date August 1, 2018
Results First Posted Date July 22, 2019
Last Update Posted Date July 22, 2019
Actual Study Start Date February 2015
Actual Primary Completion Date April 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 20, 2019)
Number of Participants With Abnormal Sequences in SERPINA1 Genes [ Time Frame: End of study NGS Result ]
Additional SERPINA1 variant of known or possible significance detected by next generation sequencing.
Original Primary Outcome Measures
 (submitted: June 21, 2016)
Frequency of abnormal sequences in the SERPINA1 genes [ Time Frame: Baseline ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures
 (submitted: June 21, 2016)
Success of home use of the DNA1 testing platform for Alpha-1 antitrypsin deficiency [ Time Frame: Baseline ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Alpha-1 Carrier Genomics Study
Official Title Alpha-1 Carrier Genomics Study
Brief Summary The goal of this study is to better understand why some Alpha-1 genotype MZ (PiMZ) individuals develop chronic obstructive pulmonary disease (COPD) while others do not. This study will examine portions of the Alpha-1 gene that are not routinely tested to determine whether other changes in this gene correlate with development and progression of COPD. Participation involves responding to questionnaires about lung health and history, and performing an at-home finger stick to obtain blood spots using a test kit that is mailed. The blood provided will be used for genetic testing and correlation of results with COPD history. Participants will receive their results and access to genetic counseling at the conclusion of the study.
Detailed Description

Alpha-1 Antitrypsin Deficiency (AATD, Alpha-1) is the best established genetic risk factor for chronic obstructive pulmonary disease (COPD) and liver disease. Clinical presentation is heterogeneous in most genotypic populations of alpha-1 antitrypsin deficiency (AATD) and genetic variation in the Alpha-1 gene has been incompletely studied. Rare gene alterations that predispose to COPD risks of classic AATD in individuals without a classic homozygous deficiency genotype have not been studied and are important in understanding, testing and treating at-risk populations. Investigators hypothesize that SERPINA1 gene sequencing will find important sequence variations in previously assessed MZ individuals who have COPD compared to age, race, sex, AAT level and smoking status matched MZ individuals who do not have COPD.

The Alpha-1 Carrier Genomics study is a pilot study that will enroll up to 150 MZ individuals. COPD+ and COPD- individuals will be matched on age, sex, race and smoking history. Presence and severity of COPD is assessed by a COPD severity score on questionnaires. Participants will be mailed a test kit to obtain and return a blood sample by finger stick for the purpose of SERPINA1 gene sequencing. Gene sequencing will identify, if present, genomic signatures that may correlate with COPD in this cohort. Participants will receive their results and access to genetic counseling at the conclusion of this study.

Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Bloodspot collections for DNA and limited protein analysis
Sampling Method Non-Probability Sample
Study Population Individuals age 18 and over who have previously had testing for Alpha-1 antitrypsin deficiency with genotype MZ (PiMZ) results, and an alpha-1 antitrypsin level of less than 16.0uM (83mg/dL) are eligible to participate.
Condition
  • Alpha-1 Antitrypsin Deficiency
  • Emphysema
  • COPD
  • Smoking
Intervention Genetic: Genetic Sequencing
Sequencing of the SERPINA1 gene
Study Groups/Cohorts
  • 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.
    Intervention: Genetic: Genetic Sequencing
  • 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.
    Intervention: Genetic: Genetic Sequencing
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: October 18, 2016)
117
Original Estimated Enrollment
 (submitted: June 21, 2016)
150
Actual Study Completion Date April 2017
Actual Primary Completion Date April 2017   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. Signed informed consent
  2. PiMZ individuals who fall into the lower quartile of AAT levels.

Exclusion Criteria:

  1. Age <18 years
  2. Known homozygous or compound heterozygous classic severe AATD (e.g. PiSZ, ZZ, Znull)
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02810327
Other Study ID Numbers Pro00036911
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Medical University of South Carolina
Study Sponsor Medical University of South Carolina
Collaborators CSL Behring
Investigators
Principal Investigator: Charlie Strange, MD Medical University of South Carolina
PRS Account Medical University of South Carolina
Verification Date May 2019