Looking for Emphysema in People Who Carry FLNA Gene Changes
Examines how often emphysema occurs in adults carrying FLNA gene changes.
Plain-language title generated from the registry record
Registry title: Lung Disease and FLNA Mutations
Key facts
- Where
- Lille, FranceSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 18 and 99 years old?
Source: NCT07592637, who can take part
Where in France
- Lille University HospitalLille, FranceNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University Hospital, Lille
- Trial code
- NCT07592637
- Record updated
- 26 May 2026
- Original description
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.Read full original descriptionShow less
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.
Inclusion: 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: 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.