Emphysema and FLNA Mutation (E-FLNA)

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.

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