Lung Disease and FLNA Mutations

N/ANot Yet RecruitingNCT07592637

University Hospital, Lille70 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Emphysema

Interventions

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

Eligibility

Sex: ALLMin age: 18 YearsMax age: 99 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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 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

Outcomes

Primary Outcomes

Frequency of emphysema in patients carrying FLNA mutation

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)