The Impact of Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

43 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-12-15

Study Completion Date

2018-04-15

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

An Extension Study to Learn About the Long-Term Safety of Fazirsiran and if Fazirsiran Can Help People With Alpha-1 Antitrypsin Liver Disease

NCT05899673

Alpha1-Antitrypsin Deficiency

ACTIVE_NOT_RECRUITING PHASE3

Etiology of Anemia

NCT00302939

Anemia

TERMINATED

Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))

NCT01880983

Erythropoietic Protoporphyria (EPP)

COMPLETED

Feasibility Study of Unfractionated Heparin in Acute Chest Syndrome

NCT02098993

Acute Chest Syndrome Sickle Cell Disease

TERMINATED PHASE2

Screening Patients With Sickle Cell Disease for Kidney Damage

NCT02239016

Sickle Cell Disease

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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).

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Alpha 1-Antitrypsin Deficiency

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

No interventions assigned to this group