Lung Disease and FLNA Mutations

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Study 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.

Eligibility

Primary outcome measure(s)

• Frequency of emphysema in patients carrying FLNA mutation — 6 months +/- 2 weeks
  Presence of emphysema on chest CT scans, defined as the presence of focal areas or regions of low attenuation, generally without visible walls: qualitative and quantitative analysis through visual and automated computer quantification of the number of voxels with a density below -950 HU (centralized review of CT scans)

Trial sites (1)

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