NCT07715617

Brief Summary

Emphysema linked to alpha-1-antitrypsin deficiency (DAAT): towards a better prediction of risks Emphysema caused by alpha-1-antitrypsin deficiency (DAAT) is a rare genetic disorder that can lead to serious complications, such as the need for a lung transplant or death, affecting up to 15% of patients. The only specific treatment available is a weekly infusion of alpha-1-antitrypsin (IV-AAT), an expensive and burdensome therapy. Currently, there is no reliable model to predict the course of the disease in these patients. Our study, conducted in several French hospitals, aims to develop a prediction tool combining clinical, biological, functional data and advanced medical image analysis (lung CT). This model will make it possible to identify the most at-risk patients, in order to better adapt their care, anticipate transplant needs and avoid unnecessary treatments for low-risk patients. Ultimately, this approach could also improve access to care for patients who need it most, while optimizing health system resources.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
230

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Feb 2026

Longer than P75 for all trials

Geographic Reach
1 country

4 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress9%
Feb 2026Mar 2031

Study Start

First participant enrolled

February 16, 2026

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

July 15, 2026

Completed
5 days until next milestone

First Posted

Study publicly available on registry

July 20, 2026

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 16, 2031

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 16, 2031

Last Updated

July 20, 2026

Status Verified

July 1, 2026

Enrollment Period

5.1 years

First QC Date

July 15, 2026

Last Update Submit

July 15, 2026

Conditions

Alpha-1-antitrypsin DeficiencyEmphysemaArtificial Intelligence (AI)Predictive Learning ModelsMortality PredictionLung Transplantation

Outcome Measures

Primary Outcomes (2)

  • Evaluation of vital status

    Death within 5 years of emphysema diagnosis.

    5 years

  • Evaluation of transplantation status

    Lung transplantation within 5 years of emphysema diagnosis.

    5 years

Study Arms (1)

Emphysema secondary to alpha-1-anti-trypsin deficiency (AATD)

The subjects included will be any patients followed and diagnosed between 2010 and 2025 in the pulmonology department for emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations, based on the diagnosis of emphysema made from an initial thoracic CT scan (+/- 12 months after diagnosis).

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

The subjects included will be any patients followed and diagnosed between 2010 and 2025 in the pulmonology department for emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations, based on the diagnosis of emphysema made from an initial thoracic CT scan (+/- 12 months after diagnosis).

You may qualify if:

  • diagnosed between 2010 and 2025
  • in the pulmonology department
  • diagnosis of emphysema and COPD secondary to alpha-1 antitrypsin deficiency ZZ, Znull, ZMalton, Z and rare mutations,
  • emphysema according to the initial thoracic CT scan (+/- 12 months after diagnosis).

You may not qualify if:

  • Age \<18 years
  • Patient opposed to the use of their data for research purposes
  • Patient deprived of liberty by judicial decision
  • Patient not affiliated with a social security scheme
  • no CT scan available
  • no lung function test available the year around CT scan

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Hospices Civils de Lyon

Bron, 69677, France

RECRUITING

CHU de Lille

Lille, 59000, France

RECRUITING

Hôpital BICHAT CLAUDE-BERNARD

Paris, 75018, France

RECRUITING

Bordeaux University Hospital

Pessac, 33600, France

RECRUITING

Related Publications (6)

  • Ho ESY, Ellis PR, Kavanagh D, Subramanian D, Stockley RA, Turner AM. Proposal and Validation of the Minimum Clinically Important Difference in Emphysema Progression. Chronic Obstr Pulm Dis. 2025 Mar 27;12(2):109-116. doi: 10.15326/jcopdf.2024.0511.

    PMID: 39933559BACKGROUND

  • McElvaney NG, Burdon J, Holmes M, Glanville A, Wark PA, Thompson PJ, Hernandez P, Chlumsky J, Teschler H, Ficker JH, Seersholm N, Altraja A, Makitaro R, Chorostowska-Wynimko J, Sanak M, Stoicescu PI, Piitulainen E, Vit O, Wencker M, Tortorici MA, Fries M, Edelman JM, Chapman KR; RAPID Extension Trial Group. Long-term efficacy and safety of alpha1 proteinase inhibitor treatment for emphysema caused by severe alpha1 antitrypsin deficiency: an open-label extension trial (RAPID-OLE). Lancet Respir Med. 2017 Jan;5(1):51-60. doi: 10.1016/S2213-2600(16)30430-1. Epub 2016 Dec 2.

    PMID: 27916480BACKGROUND

  • Stolk J, Stockley RA, Piitulainen E, Stoel BC. Relationship between Change in Lung Density and Long-Term Progression of Lung Function. Am J Respir Crit Care Med. 2015 Jul 1;192(1):114-6. doi: 10.1164/rccm.201502-0370LE. No abstract available.

    PMID: 26131993BACKGROUND

  • Sieluk J, Levy J, Sandhaus RA, Silverman H, Holm KE, Mullins CD. Costs of Medical Care Among Augmentation Therapy Users and Non-Users with Alpha-1 Antitrypsin Deficiency in the United States. Chronic Obstr Pulm Dis. 2018 Nov 8;6(1):6-16. doi: 10.15326/jcopdf.6.1.2017.0187.

    PMID: 30775420BACKGROUND

  • Gildea TR, Shermock KM, Singer ME, Stoller JK. Cost-effectiveness analysis of augmentation therapy for severe alpha1-antitrypsin deficiency. Am J Respir Crit Care Med. 2003 May 15;167(10):1387-92. doi: 10.1164/rccm.200209-1035OC. Epub 2003 Feb 5.

    PMID: 12574076BACKGROUND

  • Fraughen DD, Ghosh AJ, Hobbs BD, Funk GC, Meischl T, Clarenbach CF, Sievi NA, Schmid-Scherzer K, McElvaney OJ, Murphy MP, Roche AD, Clarke L, Strand M, Vafai-Tabrizi F, Kelly G, Gunaratnam C, Carroll TP, McElvaney NG. Augmentation Therapy for Severe Alpha-1 Antitrypsin Deficiency Improves Survival and Is Decoupled from Spirometric Decline-A Multinational Registry Analysis. Am J Respir Crit Care Med. 2023 Nov 1;208(9):964-974. doi: 10.1164/rccm.202305-0863OC.

    PMID: 37624745BACKGROUND

MeSH Terms

Conditions

alpha 1-Antitrypsin DeficiencyEmphysema

Condition Hierarchy (Ancestors)

Liver DiseasesDigestive System DiseasesLung DiseasesRespiratory Tract DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSubcutaneous EmphysemaPathologic ProcessesPathological Conditions, Signs and Symptoms

Central Study Contacts

Maéva ZYSMAN, MD, PhD

CONTACT

+335 57 65 63 38maeva.zysma@chu-bordeaux.fr

Margot GENAUD

CONTACT

+335 25 35 21 94margot.genaud@chu-bordeaux.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
RETROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 15, 2026

First Posted

July 20, 2026

Study Start

February 16, 2026

Primary Completion (Estimated)

March 16, 2031

Study Completion (Estimated)

March 16, 2031

Last Updated

July 20, 2026

Record last verified: 2026-07

Locations

FR(4)