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

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.

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