Alpha-1 Carrier Genomics Study

Related Clinical Trial
A Single Ascending and Repeated Dose Study of Oral ZF874 in Healthy Volunteers and PiMZ Subjects ARALAST NP Alpha-1 Lung Density Chronic Obstructive Pulmonary Disease-Emphysema (COPD-E) Study Early Access Program Using Alpha 1 Antitrypsin Infusion for Patients With Steroid Refractory Acute GvHD After Hematopoietic Stem Cell Transplantation (HSCT) Characterization of the Pathobiology of Early Lung Destruction in Alpha 1-Antitrypsin Deficient Individuals COPD Exacerbation Blood and Urine Biomarkers Study Alpha-1 Carrier Genomics Study Evaluation of the Efficacy and Safety of VX-814 in Subjects With the PiZZ Genotype Study of ARO-AAT in Normal Adult Volunteers Safety Study of Alfalastin (Human Alpha-1 Antitrypsin) Administered at Home AL1TER™: Alpha-1 Therapy, Evaluation, and Research Patient Registry Respreeza® Self-administration and Learning Program (AmAREtTI Study) Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency Lung Disease and Its Affect on the Work of White Blood Cells in the Lungs A 12-week Study Treating Participants Who Have alpha1-antitrypsin-related COPD With Alvelestat (MPH966) or Placebo. Environment Effect on Six-Minute Walk Test Performance Alpha-1 Foundation DNA and Tissue Bank Alpha1-antitrypsin Deficiency Registry Alpha-1 Research Registry Stage 1 Study of ARALAST NP and GLASSIA in A1PI Deficiency Alpha-1 Coded Testing(ACT) Study Long-Term Follow-up Study of ADVM-043 Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency 4-PBA: Will it Increase the Level of Alpha 1-Antitrypsin(AAT) in Persons With AAT Deficiency? Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin Deficiency Management of Patients With Alpha-1 Antitrypsin Deficiency Associated Emphysema Phase II, Safety and Efficacy Study of Kamada-alpha-1-antitrypsin (AAT) for Inhalation” EARCO REGISTRY. History Of Patients With Alpha-1 Antitrypsin GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage Study Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels Efficacy/Safety of HA Inhalation Solution for Hereditary Emphysema in Patients With Alpha-1 Antitrypsin Deficiency Safety and Pharmacokinetics of Alpha-1 MP in Patients With Alpha1-Antitrypsin Deficiency Phase II/III Study of an Alpha-1 Proteinase Inhibitor (Kamada-API) in Individuals With Alpha-1 Antitrypsin Deficiency Study of the Effect of Aerosolized, Recombinant Alpha 1-Antitrypsin on Epithelial Lining Fluid Analytes in Subjects With Alpha 1-Antitrypsin Deficiency Alvelestat (MPH966) for the Treatment of ALpha-1 ANTitrypsin Deficiency The Safety and Tolerability of Alpha-1 Modified Process (MP) In Subjects With Alpha-1-antitrypsin (AAT) Deficiency Lung Volume Reduction Coils for Emphysema in Alpha-1 Antitrypsin Deficiency Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency Alpha-1 Foundation Research Registry Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency Effects of Exercise Training in Chronic Obstructive Pulmonary Disease Versus Alpha-1-Antitrypsin-deficiency-patients Evaluate Efficacy and Safety of “Kamada-AAT for Inhalation” in Patients With AATD A Study of DCR-A1AT in Healthy Adult Volunteers and Patients With A1ATD-Associated Liver Disease Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency Effects of Different Exercise Training Modalities in Alpha-1 Antitrypsin Deficiency Patients Safety Study of an Aerosolized, Recombinant Alpha 1-Antitrypsin in Subjects With Alpha 1-Antitrypsin Deficiency Study Comparing Weekly Intravenous Administration of OctaAlpha1 With a Marketed Preparation Glassia® in Subjects With Alpha-1-antitrypsin Deficiency Long-term Safety of Alpha1-Proteinase Inhibitor (Human) in Japanese Subjects With Alpha1 Antitrypsin Deficiency (GTI1401-OLE) Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 – Proteinase Inhibitor) Aralast alpha1-proteinase Inhibitor Surveillance Study Pharmacokinetic Study of ARALAST (Human Alpha1- PI) The Use of High Resolution Chest Computed Tomography in Alpha-1 Antitrypsin Deficiency Prevalence of Alpha-1 Antitrypsin Deficiency in Chronic Obstructive Pulmonary Disease (COPD) Comparison of Pharmacokinetic, Safety, Tolerability of Alpha-1 MP and Prolastin In Alpha1-antitrypsin Deficient Adults Phase 1 Study to Assess the Safety, PK and PD of INBRX-101 in Adults With Alpha-1 Antitrypsin Deficiency Safety and Pharmacokinetics of Alpha-1 Proteinase Inhibitor in Subjects With Alpha1-Antitrypsin Deficiency The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency Epigenetic Regulation of Immunity in Alpha-1 Anti-trypsin Deficiency Microbioma in Sputa From COPD With Alpha-1 Antitrypsin Deficiency A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD) A Study to Assess Safety and PK of Liquid Alpha₁-Proteinase Inhibitor (Human) in Treating Alpha₁-Antitrypsin Deficiency

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


Primary Outcome

Number of Participants With Abnormal Sequences in SERPINA1 Genes


Alpha-1 Antitrypsin Deficiency


Genetic Sequencing

Study Arms / Comparison Groups

 MZ heterozygote with symptoms of COPD
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.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

February 2015

Completion Date

April 2017

Primary Completion Date

April 2017

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)




18 Years - N/A

Accepts Healthy Volunteers



Charlie Strange, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Medical University of South Carolina


 CSL Behring

Study Sponsor

Charlie Strange, MD, Principal Investigator, Medical University of South Carolina

Verification Date

May 2019