Lung Disease and FLNA Mutations (NCT07592637) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
Lung Disease and FLNA Mutations
France70 participantsStarted 2026-09
Plain-language 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. 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.
Who can participate
Age range
18 Years – 99 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This study is focused on finding out how often emphysema occurs in people who carry a mutation in the FLNA gene — do I know whether I've ever been tested for an FLNA mutation, and could that testing be relevant to understanding my diagnosis?
2Since this trial isn't recruiting yet, how soon do you think it might open, and is it worth waiting to see if I might be eligible once it does?
3This appears to be an observational study measuring how frequently emphysema appears in FLNA mutation carriers — does that mean it's focused on understanding a cause rather than testing a treatment, and how might that affect what I could get out of participating?
4Given that FLNA mutations are the specific focus here, could my emphysema have a genetic component that hasn't been explored yet, and should I be referred for genetic counseling regardless of this trial?
5While we wait to see if this study opens, are there standard treatments or other research studies for my emphysema that we should be pursuing in the meantime?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Frequency of emphysema in patients carrying FLNA mutation