The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency: Assessing the Association Between Diagnostic Delay and Worsened Clinical Status

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.

Study Overview

• Status: Completed
• Conditions: 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).

• Study Type: Observational
• Enrollment (Actual): 43

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Fulton, Maryland, United States, 20759
      • Biocerna LLC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

AATD Positive Adult Subjects

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Recruitment	Track the number of subjects enrolled to determine if recruitment strategies need to be altered.	3 months

Collaborators and Investigators

• Sponsor: Biocerna LLC
• Investigators: Principal Investigator: Christopher Sanders, CEO of Biocerna LLC

Study record dates

Study Major Dates

• Study Start (ACTUAL): December 15, 2016
• Primary Completion (ACTUAL): April 15, 2018
• Study Completion (ACTUAL): April 15, 2018

Study Registration Dates

• First Submitted: January 31, 2017
• First Submitted That Met QC Criteria: January 31, 2017
• First Posted (ESTIMATE): February 1, 2017

Study Record Updates

• Last Update Posted (ACTUAL): July 16, 2018
• Last Update Submitted That Met QC Criteria: July 13, 2018
• Last Verified: January 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Respiratory Tract Diseases; Lung Diseases; Liver Diseases; Genetic Diseases, Inborn; Subcutaneous Emphysema; Emphysema; Alpha 1-Antitrypsin Deficiency
• Other Study ID Numbers: 16001; Pro00019289 (OTHER: Chesapeake IRB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO