EmphysemaFLN-AirNCT07592637
Lung Disease and FLNA Mutations
A study testing Radiation: Chest HRCT in people with Emphysema, run by University Hospital, Lille at 1 site in France.
Trial summary
Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA variants. This transversal multicentric study aimed to describe the frequency of emphysema in patients carrying an FLNA variation. Read more about this study
- Who is it for?
- Ages 18 to 99 years
- Conditions the study is for
- Emphysema
- What is being tested?
- Radiation: Chest HRCT
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 70 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2026to Mar 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 99 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patient 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site
Lille University Hospital
Lille, 59000
DRI, 3.20.44.41.45 ext. +33, drs.promotion@chu-lille.fr
About this study
Official title: Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study
Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA variants. This transversal multicentric study aimed to describe the frequency of emphysema in patients carrying an FLNA variation. Patients with FLNA variations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests, a cardiac ultrasound and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA variation. The other objectives are to describe emphysema's features in these patients, the prevalence of pulmonary hypertension and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.
- Conditions
- Emphysema
- Being tested
- Radiation: Chest HRCT
- Keywords
- Emphysema, FLNA, Filaminopathies A, Pulmonary hypertension, Asthma
- Medical subject headings
- Emphysema, Hypertension, Pulmonary, Asthma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Radiation: Chest HRCTDiagnostic test
Also called Blood analysis, Lung function tests, Cardiac ultrasound
- 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) NTproBNP for all patients
- Lung function tests Lung function tests will be performed in accordance with ATS/ERS technical standard
- Cardiac ultrasound
| Study group | Role | What they receive |
|---|---|---|
| Patients | Experimental | Not described Receives: Diagnostic Test: Radiation: Chest HRCT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of emphysema in patients carrying FLNA mutation
Presence of emphysema on chest CT scans, defined as the presence of focal areas or regions of low attenuation, generally without visible walls: qualitative and quantitative analysis through visual and automated computer quantification of the number of voxels with a density below -950 HU (centralized review of CT scans)
Measured: 6 months +/- 2 weeks
Secondary outcomes (7)
Morphological of emphysema
- type of emphysema: centrilobular/panlobular/mixed
Measured: 6 months +/- 2 weeks
Topographical characteristics of emphysema
predominant distribution of emphysema: upper regions/lower regions/no predominant distribution
Measured: 6 months +/- 2 weeks
Severity of emphysema
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)
Measured: 6 months +/- 2 weeks
Probabilistic diagnosis of pulmonary hypertension
Probabilistic diagnosis of pulmonary hypertension by echocardiography according to ERS/ESC guidelines, based on measurement of the maximum tricuspid regurgitation velocity in m/s and the presence of indirect signs suggestive of pulmonary hypertension as defined by ERS/ESC guidelines.
Measured: 6 months +/- 2 weeks
Prevalence of pulmonary hypertension
Measured: 6 months +/- 2 weeks
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test
Percentage of patients with obstructive ventilatory dysfunction defined by a post-bronchodilator FEV1/FVC ratio <LLN " (LLN = lower limit of normal
Measured: 6 months +/- 2 weeks
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Measured: 6 months +/- 2 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2026
- Study startSep 2026 (estimated)
- Primary completionMar 2029 (estimated)
- Study completionMar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for EmphysemaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Victor VALENTIN, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07592637
- Sponsor's protocol ID
- 2025_0283
- Acronym
- FLN-Air
- Status last verified
- May 2026
- First submitted
- 22 Apr 2026
- Last updated
- 26 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study
- ClinicalTrials.gov ID
- NCT07592637
- Acronym / sponsor ID
- FLN-Air / 2025_0283
- Conditions
- Emphysema
- Keywords
- Emphysema, FLNA, Filaminopathies A, Pulmonary hypertension, Asthma
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- Sep 2026 (estimated)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 18 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA variants. This transversal multicentric study aimed to describe the frequency of emphysema in patients carrying an FLNA variation. Patients with FLNA variations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests, a cardiac ultrasound and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA variation. The other objectives are to describe emphysema's features in these patients, the prevalence of pulmonary hypertension and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Diagnostic Test: Radiation: Chest HRCT |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Patient 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Radiation: Chest HRCTAlso: Blood analysis, Lung function tests, Cardiac ultrasound1. Radiation: Chest HRCT A chest HRCT to identify emphysema 2. Genetic: blood analysis If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency) NTproBNP for all patients 3. Lung function tests Lung function tests will be performed in accordance with ATS/ERS technical standard 4. Cardiac ultrasound | Diagnostic test | Patients |
Primary outcome
Frequency of emphysema in patients carrying FLNA mutation
Time frame: 6 months +/- 2 weeks
Presence of emphysema on chest CT scans, defined as the presence of focal areas or regions of low attenuation, generally without visible walls: qualitative and quantitative analysis through visual and automated computer quantification of the number of voxels with a density below -950 HU (centralized review of CT scans)
7 secondary outcomes
Morphological of emphysema
Time frame: 6 months +/- 2 weeks
Topographical characteristics of emphysema
Time frame: 6 months +/- 2 weeks
Severity of emphysema
Time frame: 6 months +/- 2 weeks
Probabilistic diagnosis of pulmonary hypertension
Time frame: 6 months +/- 2 weeks
Prevalence of pulmonary hypertension
Time frame: 6 months +/- 2 weeks
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test
Time frame: 6 months +/- 2 weeks
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Time frame: 6 months +/- 2 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Victor VALENTIN, MD principal investigator
University Hospital, Lille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Radiation: Chest HRCT in people with Emphysema, run by University Hospital, Lille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 26 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Victor VALENTIN, MD (3.20.44.50.36 ext. +33, victor.valentin@chu-lille.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of emphysema in patients carrying FLNA mutation (time frame: 6 months +/- 2 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 May 2026.