Emphysema
Conditions
Keywords
Emphysema, FLNA, Filaminopathies A, Pulmonary hypertension, Asthma
Brief 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.
Interventions
DIAGNOSTIC_TESTRadiation: 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
Sponsors
University Hospital, Lille
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Morphological of emphysema | 6 months +/- 2 weeks | \- type of emphysema: centrilobular/panlobular/mixed |
| Topographical characteristics of emphysema | 6 months +/- 2 weeks | predominant distribution of emphysema: upper regions/lower regions/no predominant distribution |
| Severity of emphysema | 6 months +/- 2 weeks | objective quantification of emphysema: % of lung volume occupied by emphysema (% of lung with density\<-950 HU, 15th percentile parenchyamal density); use of quantification software, available in clinical routine (eXamine; Siemens Healthineers) |
| Probabilistic diagnosis of pulmonary hypertension | 6 months +/- 2 weeks | Probabilistic diagnosis of pulmonary hypertension by echocardiography according to ERS/ESC guidelines, based on measurement of the maximum tricuspid regurgitation velocity in m/s and the presence of indirect signs suggestive of pulmonary hypertension as defined by ERS/ESC guidelines. |
| Prevalence of pulmonary hypertension | 6 months +/- 2 weeks | — |
| Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test | 6 months +/- 2 weeks | Percentage of patients with obstructive ventilatory dysfunction defined by a post-bronchodilator FEV1/FVC ratio \<LLN " (LLN = lower limit of normal |
| Frequency of unexplained emphysema in patients carrying a FLNA mutation | 6 months +/- 2 weeks | — |
Countries
France
Contacts
CONTACTVictor VALENTIN, MD
PRINCIPAL_INVESTIGATORVictor VALENTIN, MD
University Hospital, Lille
Outcome results
None listed