EmphysemaE-FNLANCT05550844
Emphysema and FLNA Mutation (E-FLNA)
An observational study of 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 mutation. This prospective, monocentric, cross-sectional study aimed to describe the frequency of emphysema in patients carrying an FLNA mutation. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Emphysema
- What is being tested?
- Chest HRCT, blood analysis and Lung function tests
- Type of treatment
- Surgery or procedure
- How many people
- 8 participants
- Where
- 1 siteFrance
- Study dates
- 1 Feb 2023to 23 Oct 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
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 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients carrying FLNA mutation identified in Lille University Hospital in BAMARA registry
Who may be able to join
- 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
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.
About this study
Official title: 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.
- Conditions
- Emphysema
- Being tested
- Chest HRCT, blood analysis, Lung function tests
- Keywords
- Emphysema, Lung function, Filamin A
- Medical subject headings
- Emphysema
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Chest HRCTRadiation
A chest HRCT to identify emphysema
blood analysisGenetic
If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)
Lung function testsOther
Lung function tests will be performed in accordance with ATS/ERS technical standard
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
The presence or absence of emphysema is determined by the chest CT scan.
Measured: Baseline
Secondary outcomes (5)
Morphological of emphysema
type of emphysema: centrilobular/panlobular/mixed
Measured: Baseline
Topographical characteristics of emphysema
predominant distribution of emphysema: upper regions/lower regions/no predominance
Measured: Baseline
The 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: Baseline
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test
Measured: Baseline
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Sep 2022
- Study start1 Feb 2023
- Primary completion23 Oct 2023
- Study completion23 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Collaborators
- Santelys Association
- Responsible party
- Sponsor
- Investigators
- Cécile Chenivesse, MD,PhD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05550844
- Sponsor's protocol ID
- 2021_0511
- Other IDs
- 2022-A00972-41
- Acronym
- E-FNLA
- Status last verified
- Sep 2022
- First submitted
- 19 Sep 2022
- Last updated
- 20 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Michalski A, Vincent-Delorme C, Demoulin-Alexikova S, Smol T, Felloni P, Le Rouzic O, Perez T, Bautin N, Wemeau L, Balduyck M, Zerimech F, Pontana F, Delsart P, Cailliau E, Chenivesse C, Valentin V. Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study. Orphanet J Rare Dis. 2025 Nov 5;20(1):560. doi: 10.1186/s13023-025-04068-6.
PubMed 41194194
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation
- ClinicalTrials.gov ID
- NCT05550844
- Acronym / sponsor ID
- E-FNLA / 2021_0511
- Conditions
- Emphysema
- Keywords
- Emphysema, Lung function, Filamin A
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Collaborators
- Santelys Association
- Study start
- 1 Feb 2023 (actual)
- Primary completion
- 23 Oct 2023 (actual)
- Study completion
- 23 Oct 2023 (actual)
- First posted
- 22 Sep 2022 (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 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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients carrying FLNA mutation identified in Lille University Hospital in BAMARA registry
Key inclusion criteria (4 listed)
- 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
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 |
|---|---|---|
| Chest HRCTA chest HRCT to identify emphysema | Radiation | – |
| blood analysisIf emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation) | Genetic | – |
| Lung function testsLung function tests will be performed in accordance with ATS/ERS technical standard | Other | – |
Primary outcome
Frequency of emphysema in patients carrying FLNA mutation
Time frame: Baseline
The presence or absence of emphysema is determined by the chest CT scan.
5 secondary outcomes
Morphological of emphysema
Time frame: Baseline
Topographical characteristics of emphysema
Time frame: Baseline
The severity of emphysema
Time frame: Baseline
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test
Time frame: Baseline
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2026.
- Derived from this study: PubMed 41194194Michalski A, Vincent-Delorme C, Demoulin-Alexikova S, Smol T, Felloni P, Le Rouzic O, Perez T, Bautin N, Wemeau L, Balduyck M, Zerimech F, Pontana F, Delsart P, Cailliau E, Chenivesse C, Valentin V. Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study. Orphanet J Rare Dis. 2025 Nov 5;20(1):560. doi: 10.1186/s13023-025-04068-6.
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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. This study is not recruiting at the moment.
Cécile Chenivesse, MD,PhD 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?
An observational study of 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: finished, as of the sponsor's last update on 20 Feb 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of emphysema in patients carrying FLNA mutation (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05550844, which also lists 1 linked publication.
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 20 Feb 2026.