The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

Biocerna

Status: Completed

Conditions: Alpha 1-Antitrypsin Deficiency

Study type: Observational

Funder types: Industry

Identifiers

NCT03039335

Pro00019289 (Other Identifier)

16001

Details and patient eligibility

About

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.

Full 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).

Enrollment: 43 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

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

Trial design

43 participants in 1 patient group

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.