EMPHYSEMA AND FLNA MUTATION

Study Overview
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Brief Summary
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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.

Official Title
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Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation

Conditions
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Emphysema

Intervention / Treatment
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* Radiation: Chest HRCT
* Genetic: blood analysis
* Other: Lung function tests


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Radiation: Chest HRCT|A chest HRCT to identify emphysema|
|Genetic: blood analysis|If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)|
|Other: Lung function tests|Lung function tests will be performed in accordance with ATS/ERS technical standard|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of emphysema in patients carrying FLNA mutation | The presence or absence of emphysema is determined by the chest CT scan. | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Morphological of emphysema | type of emphysema: centrilobular/panlobular/mixed | Baseline | 
| Topographical characteristics of emphysema | predominant distribution of emphysema: upper regions/lower regions/no predominance | Baseline | 
| The severity of emphysema | 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) | Baseline | 
| Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test |  | Baseline | 
| Frequency of unexplained emphysema in patients carrying a FLNA mutation |  | Baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Emphysema, Lung function, Filamin A