EMPHYSEMA AND FLNA MUTATION (E-FNLA)

University Hospital, Lille

Status: Completed

Conditions: Emphysema

Treatments: Genetic: blood analysis; Radiation: Chest HRCT; Other: Lung function tests

Study type: Observational

Funder types: Other

Identifiers

NCT05550844

2022-A00972-41 (Other Identifier)

2021_0511

Details and patient eligibility

About

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.

Enrollment: 8 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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