An observational study in Alpha-1 Antitrypsin Deficiency (AATD), sponsored by University of Parma. Completed at 1 site in Italy. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-11-21.
Sponsored by University of Parma · Observational
This single-center, longitudinal, observational, prospective study aims to assess the applicability, adherence, and clinical impact of the Active Cycle of Breathing Technique (ACBT) with augmented reality support in patients with alpha-1 antitrypsin deficiency (AATD).
A total of 50 adult AATD patients will be recruit from the Lung Function Unit of the University Hospital of Parma, meeting specific inclusion criteria. Participants will perform ACBT twice daily and walk at least 5000 steps per day. Clinical and functional outcomes including dyspnea perception, lung function, and quality of life, will be assessed before and after a six-week ACBT program.
The study explores whether augmented reality enhance adherence and efficacy compared to conventional pulmonary rehabilitation (PR) methods. The expected outcome is improved adherence to PR.
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by mutations in the SERPINA1 gene, located on chromosome 14. The condition is characterized by low circulating levels of alpha-1 antitrypsin (AAT), a glycoprotein primarily produced by hepatocytes, which plays a crucial role in inhibiting neutrophil elastase (NE). Without adequate AAT, unregulated NE activity damages the lung parenchyma, leading to progressive emphysema. AATD presents with variable phenotypic expression, ranging from asymptomatic individuals to those with severe pulmonary and hepatic complications.
Treatment includes intravenous AAT replacement therapy, vaccination and guideline-recommended pulmonary rehabilitation (PR) based on the patient's clinical condition.
PR consists of a structured program combining breathing exercises, physical training, education, and psychological support to optimize respiratory function and improve patients' quality of life. One of the most effective techniques within PR is the Active Cycle of Breathing Technique (ACBT), which enhances airway clearance and lung function. ACBT is a simple, standardized, and home-based technique that patients can perform with or without digital tools. ACBT has already been shown to improve forced vital capacity, peak expiratory flow, arterial oxygenation and exercise capacity.
A tendency towards poor adherence to PR has been reported in the literature. To facilitate the performance of PR procedures, technological evolution in recent decades has brought new complementary techniques such as active video games, virtual reality and augmented reality.
ThIs study aims to assess satisfaction, adherence, and usability of pulmonary rehabilitation techniques in AATD patients, both with and without technological support, through relevant questionnaires (VAS, RAI, USE, TAM). Additionally, it aims to describe changes in the perception of dyspnea (mMRC), quality of life (EuroQol 5), impact of the pathology on daily life, and some functional parameters (FEV1, FVC, R5-R20, LCI, metres walked assessed by the six-minute walking test) at baseline and at the end of the rehabilitation program.
Data will be collected in a dedicated electronic Clinical Records Form (CRF). The database will be saved on a password-protected company Personal Computer (PC) which will be updated at each visit and used exclusively for scientific research purposes. At the time of enrollment, each patient will receive an alphanumeric code so that any information collected during the study, and in particular sensitive data, is treated in an anonymous manner. Data reporting patients' identifications will only be used to file patients and collect informed consent.
University of Parma is the lead sponsor of 76 studies on the registry; 8 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The population will consist of 50 adult patients, referred at outpatient clinic of the Respiratory Disease Unit of the University Hospital of Parma (Italy)
Exclusion Criteria:
Adults with a confirmed diagnosis of alpha-1 antitrypsin deficiency (AATD) with asthma and/or COPD.
Other: Pulmonary Rehabilitation
the Active Cycle of Breathing Technique (ACBT) is a simple, standardized, and home-based technique that patients can perform with or without digital tools. ACBT has already been shown to improve forced vital capacity, peak expiratory flow, arterial oxygenation and exercise capacity.
Patient satisfaction with PR techniques using Technology Acceptance Model (TAM) questionnaire.
Satisfaction will be assessed using the Technology Acceptance Model (TAM) questionnaire, with scores ranging from 1 to 7, where lower scores indicate more satisfaction.
Time frame: six weeks
Patient adherence to the PR techniques using the Rehabilitation Adherence Index (RAI) questionnaire.
Adherence will be assessed using the Rehabilitation Adherence Index (RAI) questionnaire, with scores ranging from 1 to 7, where higher scores indicate better adherence.
Time frame: six weeks
Usability of pulmonary rehabilitation techniques using the Usefulness, Satisfaction and Ease of Use (USE) questionnaire
Usability will be measured using the Usefulness, Satisfaction and Ease of Use (USE) questionnaire, with scores ranging from 1 to 7, where higher scores indicate better usability.
Time frame: six weeks
To describe the change in perception of dyspnea at baseline and at the end of the PR using Modified Medical Research Council (mMRC) questionnaire.
The Modified Medical Research Council (mMRC) questionnaire assesses the perception of dyspnea with scores ranging from 0 to 4, with higher scores indicating greater severity.
Time frame: six weeks
To describe the change in quality of life at baseline and at the end of the PR using EuroQol-5D (EQ-5D) questionnaire.
The EQ-5D questionnaire assesses health-related quality of life across five dimensions: mobility, self-care, usual activities, pain/discomfort, and anxiety/depression. Each dimension has five levels of severity: no problems, slight problems, moderate problems, severe problems, and unable to perform/extreme problems. Additionally, the EQ-5D includes a visual analogue scale (VAS) where respondents rate their overall health on a scale from 0 to 100, with 0 being the worst imaginable health and 100 being the best.
Time frame: six weeks
To assess the impact of Chronic Obstructive Pulmonary Disease (COPD) on AATD- related COPD patients using COPD Assessment Test (CAT)
The COPD Assessment Test (CAT) is assess the impact of Chronic Obstructive Pulmonary Disease (COPD) on a person's daily life. It ranges from 0 to 5, where higher scores indicate a greater impact of COPD on daily life
Time frame: six weeks
To assess the impact of asthma on AATD patients with asthma using the Asthma Control Test (ACT)
The Asthma Control Test (ACT) is a questionnaire used to assess asthma control, with scores ranging from 5 to 25. Higher scores indicate better asthma control, meaning the asthma is well-managed and less likely to interfere with daily activities.
Time frame: six weeks
To describe the change in functional respiratory parameters at baseline and at the end of the PR program using spirometry.
Spirometry will be performed according to ATS/ERS standards to obtain Forced Expiratory Volume in 1 second (FEV₁, % predicted), Forced Vital Capacity (FVC, % predicted), and FEV₁/FVC, %.
Time frame: six weeks
Plan to share: Yes — Data will be collected in a dedicated electronic Clinical Records Form (CRF). The database will be saved on a password- protected company personal computer which will be updated at each visit and used exclusively for scientific research purposes. At the time of enrolment, each patient will receive an alphanumeric code so that any information collected during the study, and in particular sensitive data, will be treated in an anonymous manner. Data reporting patients' identifications will only be used to file patients and collect informed consent.
Supporting information: Study protocol, Sap, Icf, Csr, Analytic code
This study is completed, as verified in Jul 2025. You cannot join it, but the record below documents what was studied.
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alpha 1-Antitrypsin Deficiency
University of Parma