The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03039335
• Other study ID #: 16001
• Secondary ID: Pro00019289
• Status: Completed
• Start date: December 15, 2016
• Est. completion date: April 15, 2018

Study information

• Verified date: January 2018
• Source: Biocerna LLC
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 43
• Est. completion date: April 15, 2018
• Est. primary completion date: April 15, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• 18 years of age or older

• Positive AATD Test Result

Exclusion Criteria:

• Previous Positive AATD Test Result

• Negative Test Result for AATD

Related Conditions & MeSH terms

• Alpha 1-Antitrypsin Deficiency

Locations

Country	Name	City	State
United States	Biocerna LLC	Fulton	Maryland

Sponsors (1)

Lead Sponsor	Collaborator
Biocerna LLC

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Recruitment	Track the number of subjects enrolled to determine if recruitment strategies need to be altered.	3 months