Effect Of Pulmonary Rehabilitation in Patients With Alpha-1 Antitrypsin Deficiency

NCT ID: NCT07242079

Last Updated: 2025-11-21

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 50 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2024-11-15
• Study Completion Date: 2025-06-24

Brief Summary

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.

Detailed Description

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.

Conditions

Alpha-1 Antitrypsin Deficiency (AATD)

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Study Groups

Patients with alpha-1 antitrypsin deficiency (AATD)

Adults with a confirmed diagnosis of alpha-1 antitrypsin deficiency (AATD) with asthma and/or COPD.

Pulmonary Rehabilitation

Intervention Type: OTHER

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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Male or female adults aged ≥18 years;
• Signed informed consent;
• All AATD patients, regardless of nephelometric alpha-1 antitrypsin dose and clinical phenotype, who require PR according to guidelines

Exclusion Criteria

• Subjects unable to perform the lung function tests and rehabilitation program required by the protocol

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Chiesi Farmaceutici S.p.A.

INDUSTRY

Sponsor Role: collaborator

University of Parma

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

University of Parma

Parma, Italy, Italy

Countries

Italy

References

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Reference Type: RESULT

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Other Identifiers

31276

Identifier Type: -

Identifier Source: org_study_id