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Emphysema and FLNA Mutation (E-FLNA)

NCT05550844 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 8

Last updated 2026-02-20

No results posted yet for this study

Summary

Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA mutation. This prospective, monocentric, cross-sectional study aimed to describe the frequency of emphysema in patients carrying an FLNA mutation. Patients with FLNA mutations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA mutation. The other objectives are to describe emphysema's features in these patients and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.

Conditions

  • Emphysema

Interventions

RADIATION

Chest HRCT

A chest HRCT to identify emphysema

GENETIC

blood analysis

If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)

OTHER

Lung function tests

Lung function tests will be performed in accordance with ATS/ERS technical standard

Sponsors & Collaborators

  • Santelys Association

    collaborator OTHER

  • University Hospital, Lille

    lead OTHER

Principal Investigators

  • Cécile Chenivesse, MD,PhD · University Hospital, Lille

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-02-01
Primary Completion
2023-10-23
Completion
2023-10-23

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05550844 on ClinicalTrials.gov