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

NCT07242079 | Completed

• 1 other identifier: 31276
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Alpha-1 Antitrypsin Deficiency (AATD)

Keywords

Alpha-1 antitrypsin deficiency; Pulmonary rehabilitation; Active Cycle of Breathing Technique

Outcome Measures

Primary Outcomes (3)

• 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.

  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.

  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.

  six weeks

Secondary Outcomes (5)

• To describe the change in perception of dyspnea at baseline and at the end of the PR using Modified Medical Research Council (mMRC) questionnaire.

  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.

  six weeks

• To assess the impact of Chronic Obstructive Pulmonary Disease (COPD) on AATD- related COPD patients using COPD Assessment Test (CAT)

  six weeks

• To assess the impact of asthma on AATD patients with asthma using the Asthma Control Test (ACT)

  six weeks

• To describe the change in functional respiratory parameters at baseline and at the end of the PR program using spirometry.

  six weeks

Study Arms (1)

Patients with alpha-1 antitrypsin deficiency (AATD)

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

Other: Pulmonary Rehabilitation

Interventions

Pulmonary Rehabilitation 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.

Patients with alpha-1 antitrypsin deficiency (AATD)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The population will consist of 50 adult patients, referred at outpatient clinic of the Respiratory Disease Unit of the University Hospital of Parma (Italy)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University of Parma: lead
• Chiesi Farmaceutici S.p.A.: collaborator

Study Sites (1)

University of Parma

Parma, Italy, 43126, Italy

Location

Related Publications (17)

• Conrad A, Janciauskiene S, Kohnlein T, Fuge J, Ivanyi P, Tudorache I, Gottlieb J, Welte T, Fuehner T. Impact of alpha 1-antitrypsin deficiency and prior augmentation therapy on patients' survival after lung transplantation. Eur Respir J. 2017 Sep 10;50(3):1700962. doi: 10.1183/13993003.00962-2017. Print 2017 Sep. No abstract available.

  PMID: 28890438 RESULT

• Cerdan de Las Heras J, Tulppo M, Kiviniemi AM, Hilberg O, Lokke A, Ekholm S, Catalan-Matamoros D, Bendstrup E. Augmented reality glasses as a new tele-rehabilitation tool for home use: patients' perception and expectations. Disabil Rehabil Assist Technol. 2022 May;17(4):480-486. doi: 10.1080/17483107.2020.1800111. Epub 2020 Aug 4.

  PMID: 32750254 RESULT

• Patsaki I, Avgeri V, Rigoulia T, Zekis T, Koumantakis GA, Grammatopoulou E. Benefits from Incorporating Virtual Reality in Pulmonary Rehabilitation of COPD Patients: A Systematic Review and Meta-Analysis. Adv Respir Med. 2023 Aug 10;91(4):324-336. doi: 10.3390/arm91040026.

  PMID: 37622840 RESULT

• Hayton C, Clark A, Olive S, Browne P, Galey P, Knights E, Staunton L, Jones A, Coombes E, Wilson AM. Barriers to pulmonary rehabilitation: characteristics that predict patient attendance and adherence. Respir Med. 2013 Mar;107(3):401-7. doi: 10.1016/j.rmed.2012.11.016. Epub 2012 Dec 19.

  PMID: 23261311 RESULT

• Depew ZS, Novotny PJ, Benzo RP. How many steps are enough to avoid severe physical inactivity in patients with chronic obstructive pulmonary disease? Respirology. 2012 Aug;17(6):1026-7. doi: 10.1111/j.1440-1843.2012.02207.x.

  PMID: 22672739 RESULT

• Savci S, Ince DI, Arikan H. A comparison of autogenic drainage and the active cycle of breathing techniques in patients with chronic obstructive pulmonary diseases. J Cardiopulm Rehabil. 2000 Jan-Feb;20(1):37-43. doi: 10.1097/00008483-200001000-00006.

  PMID: 10680096 RESULT

• Zisi D, Chryssanthopoulos C, Nanas S, Philippou A. The effectiveness of the active cycle of breathing technique in patients with chronic respiratory diseases: A systematic review. Heart Lung. 2022 May-Jun;53:89-98. doi: 10.1016/j.hrtlng.2022.02.006. Epub 2022 Feb 27.

  PMID: 35235877 RESULT

• Barjaktarevic I, Campos M. Management of lung disease in alpha-1 antitrypsin deficiency: what we do and what we do not know. Ther Adv Chronic Dis. 2021 Jul 29;12_suppl:20406223211010172. doi: 10.1177/20406223211010172. eCollection 2021.

  PMID: 34408831 RESULT

• Alwadani FA, Wheeler K, Pittaway H, Turner AM. Pulmonary Rehabilitation for Chronic Obstructive Pulmonary Disease Patients with Underlying Alpha-1 Antitrypsin Deficiency: A Systematic Review and Practical Recommendations. Chronic Obstr Pulm Dis. 2024 Jan 25;11(1):121-132. doi: 10.15326/jcopdf.2023.0434.

  PMID: 37813825 RESULT

• Nici L, Donner C, Wouters E, Zuwallack R, Ambrosino N, Bourbeau J, Carone M, Celli B, Engelen M, Fahy B, Garvey C, Goldstein R, Gosselink R, Lareau S, MacIntyre N, Maltais F, Morgan M, O'Donnell D, Prefault C, Reardon J, Rochester C, Schols A, Singh S, Troosters T; ATS/ERS Pulmonary Rehabilitation Writing Committee. American Thoracic Society/European Respiratory Society statement on pulmonary rehabilitation. Am J Respir Crit Care Med. 2006 Jun 15;173(12):1390-413. doi: 10.1164/rccm.200508-1211ST. No abstract available.

  PMID: 16760357 RESULT

• Crystal RG. Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest. 1990 May;85(5):1343-52. doi: 10.1172/JCI114578. No abstract available.

  PMID: 2185272 RESULT

• Nukiwa T, Brantly M, Ogushi F, Fells G, Satoh K, Stier L, Courtney M, Crystal RG. Characterization of the M1(Ala213) type of alpha 1-antitrypsin, a newly recognized, common "normal" alpha 1-antitrypsin haplotype. Biochemistry. 1987 Aug 25;26(17):5259-67. doi: 10.1021/bi00391a008.

  PMID: 2890373 RESULT

• Brantly M, Nukiwa T, Crystal RG. Molecular basis of alpha-1-antitrypsin deficiency. Am J Med. 1988 Jun 24;84(6A):13-31. doi: 10.1016/0002-9343(88)90154-4.

  PMID: 3289385 RESULT

• DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004 Mar;59(3):259-64. doi: 10.1136/thx.2003.006502.

  PMID: 14985567 RESULT

• Long GL, Chandra T, Woo SL, Davie EW, Kurachi K. Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry. 1984 Oct 9;23(21):4828-37. doi: 10.1021/bi00316a003.

  PMID: 6093867 RESULT

• Lai EC, Kao FT, Law ML, Woo SL. Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. Am J Hum Genet. 1983 May;35(3):385-92.

  PMID: 6602546 RESULT

• Luisetti M, Seersholm N. Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency. Thorax. 2004 Feb;59(2):164-9. doi: 10.1136/thorax.2003.006494.

  PMID: 14760160 RESULT

MeSH Terms

Conditions

alpha 1-Antitrypsin Deficiency

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 6 Weeks
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 27, 2025
• First Posted: November 21, 2025
• Study Start: November 15, 2024
• Primary Completion: June 24, 2025
• Study Completion: June 24, 2025
• Last Updated: November 21, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: Data will be available during the course of the study. The Investigator will keep paper and electronic copies of all documentation at the Center for a period of at least 7 years after the completion of the study and then he will arrange for its destruction.
• Access Criteria: Only the personal delegated to collaborate with this study will be able to access to the database using a password to login.

Locations

IT (1)