The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

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Brief Title

The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

Official Title

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

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 Type

Observational


Primary Outcome

Recruitment


Condition

Alpha 1-Antitrypsin Deficiency


Study Arms / Comparison Groups

 Adults with an AAT Deficiency
Description:  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.

Publications

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

Recruitment Information



Estimated Enrollment

43

Start Date

December 15, 2016

Completion Date

April 15, 2018

Primary Completion Date

April 15, 2018

Eligibility Criteria

        Inclusion Criteria:

          -  18 years of age or older

          -  Positive AATD Test Result

        Exclusion Criteria:

          -  Previous Positive AATD Test Result

          -  Negative Test Result for AATD
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Christopher Sanders, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT03039335

Organization ID

16001

Secondary IDs

Pro00019289

Responsible Party

Sponsor

Study Sponsor

Biocerna LLC


Study Sponsor

Christopher Sanders, Principal Investigator, CEO of Biocerna LLC


Verification Date

January 2018