Emphysema and FLNA Mutation (E-FLNA) (E-FNLA)

February 18, 2026 updated by: University Hospital, Lille

Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

8

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Hauts-de-France
      • Lille, Hauts-de-France, France, 59037
        • Lille University Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients carrying FLNA mutation identified in Lille University Hospital in BAMARA registry

Description

Inclusion Criteria:

  • patients with an FLNA mutation (or gene alteration)
  • patient who has given written consent to participate in the trial
  • socially insured patient
  • patient willing to comply with all study procedures and duration

Exclusion Criteria:

  • Patient refused or unable to give informed consent
  • Administrative reasons: inability to receive information, inability to participate in the entire study, lack of coverage by the social security system,
  • Pregnant or breastfeeding women
  • Patient under guardianship
  • Persons deprived of liberty

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Frequency of emphysema in patients carrying FLNA mutation
Time Frame: Baseline
The presence or absence of emphysema is determined by the chest CT scan.
Baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Morphological of emphysema
Time Frame: Baseline
type of emphysema: centrilobular/panlobular/mixed
Baseline
Topographical characteristics of emphysema
Time Frame: Baseline
predominant distribution of emphysema: upper regions/lower regions/no predominance
Baseline
The severity of emphysema
Time Frame: Baseline
objective quantification of emphysema: % of lung volume occupied by emphysema (% of lung with density<-950 HU, 15th percentile parenchyamal density); use of quantification software, available in clinical routine (eXamine; Siemens Healthineers)
Baseline
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test
Time Frame: Baseline
Baseline
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Time Frame: Baseline
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Lille

Collaborators

Santelys Association

Investigators

  • Principal Investigator: Cécile Chenivesse, MD,PhD, University Hospital, Lille

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2023

Primary Completion (Actual)

October 23, 2023

Study Completion (Actual)

October 23, 2023

Study Registration Dates

First Submitted

September 19, 2022

First Submitted That Met QC Criteria

September 19, 2022

First Posted (Actual)

September 22, 2022

Study Record Updates

Last Update Posted (Actual)

February 20, 2026

Last Update Submitted That Met QC Criteria

February 18, 2026

Last Verified

September 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2021_0511
  • 2022-A00972-41 (Other Identifier: ID-RCB number, ANSM)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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