The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

Completed

• Conditions: Alpha 1-Antitrypsin Deficiency

• Registration Number: NCT03039335
• Lead Sponsor: 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.

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 Timeline

• Study Start: 2016-12-15
• Study First Submitted: 2017-01-31
• Study First Submitted QC: 2017-01-31
• Study First Posted: 2017-02-01
• Status Verified: 2018-01
• Primary Completion: 2018-04-15
• Study Completion: 2018-04-15
• Last Update Submitted: 2018-07-13
• Last Update Posted: 2018-07-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 43

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Recruitment	3 months	Track the number of subjects enrolled to determine if recruitment strategies need to be altered.

Trial Locations

Locations (1)

Biocerna LLC; 🇺🇸 Fulton, Maryland, United States