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Lung Disease and FLNA Mutations
Sponsor: University Hospital, Lille
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.
Official title: Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study
Key Details
Gender
All
Age Range
18 Years - 99 Years
Study Type
INTERVENTIONAL
Enrollment
70
Start Date
2026-09
Completion Date
2029-03
Last Updated
2026-05-26
Healthy Volunteers
No
Conditions
Interventions
Radiation: Chest HRCT
1. Radiation: Chest HRCT A chest HRCT to identify emphysema 2. Genetic: blood analysis If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency) NTproBNP for all patients 3. Lung function tests Lung function tests will be performed in accordance with ATS/ERS technical standard 4. Cardiac ultrasound
Locations (1)
Lille University Hospital
Lille, France