Working... Menu

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

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. Identifier: NCT03039335
Recruitment Status : Completed
First Posted : February 1, 2017
Last Update Posted : July 16, 2018
Information provided by (Responsible Party):
Biocerna LLC

Brief Summary:
The objective of this study is to prospectively assess whether there is any interval between first symptom and initial diagnosis that is experienced by patients with newly diagnosed alpha-1 antitrypsin deficiency (AATD) and then to assess whether this diagnostic interval is associated with worsened clinical status at the time of initial diagnosis.

Condition or disease
Alpha 1-Antitrypsin Deficiency

Detailed Description:
The study protocol proposes to assess participants' clinical status based on the results of spirometry tests that are performed by the patient's managing physician as a routine part of clinical care of individuals with AATD within +/- 6 months of the initial diagnosis, subjects' St. George's Respiratory Questionnaire (SGRQ) at the time of initial diagnosis, and their COPD Assessment Test (CAT) result at the time of initial diagnosis of AATD (hereafter called "time zero" or T0 defined as the day on which the patient's test shows AATD from the blood work submitted for testing to Biocerna LLC by the patients' managing physicians as part of their routine clinical management). After offering verbal consent, subjects will complete a survey that assesses various clinical domains, including demographic features, how was AATD ascertained, initial symptom ascribable to AATD, the number of healthcare providers (and specific types of providers) seen before initial diagnosis, and clinical status at T0 or within a defined, relatively narrow temporal window (+/- 6 months) of T0. As in prior studies, the diagnostic interval will be defined as the duration between self-reported initial symptom of AATD (usually dyspnea in > 80% of cases3) and initial confirmed diagnosis of AATD (T0).

Layout table for study information
Study Type : Observational
Actual Enrollment : 43 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: Assessing the Association Between Diagnostic Delay and Worsened Clinical Status
Actual Study Start Date : December 15, 2016
Actual Primary Completion Date : April 15, 2018
Actual Study Completion Date : April 15, 2018

Adults with an AAT Deficiency
Subjects over the age of 18 that have been recently diagnosed with an Alpha-1 Antitrypsin deficiency will be enrolled into the study to observe the interval between first symptom and initial diagnosis.

Primary Outcome Measures :
  1. Recruitment [ Time Frame: 3 months ]
    Track the number of subjects enrolled to determine if recruitment strategies need to be altered.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
AATD Positive Adult Subjects

Inclusion Criteria:

  • 18 years of age or older
  • Positive AATD Test Result

Exclusion Criteria:

  • Previous Positive AATD Test Result
  • Negative Test Result for AATD

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03039335

Layout table for location information
United States, Maryland
Biocerna LLC
Fulton, Maryland, United States, 20759
Sponsors and Collaborators
Biocerna LLC
Layout table for investigator information
Principal Investigator: Christopher Sanders CEO of Biocerna LLC

Layout table for additonal information
Responsible Party: Biocerna LLC Identifier: NCT03039335     History of Changes
Other Study ID Numbers: 16001
Pro00019289 ( Other Identifier: Chesapeake IRB )
First Posted: February 1, 2017    Key Record Dates
Last Update Posted: July 16, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Layout table for MeSH terms
Alpha 1-Antitrypsin Deficiency
Liver Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Subcutaneous Emphysema
Pathologic Processes
Alpha 1-Antitrypsin
Protein C Inhibitor
Trypsin Inhibitors
Serine Proteinase Inhibitors
Protease Inhibitors
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action