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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Radiation: Chest HRCT | Diagnostic Test |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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) | 6 months +/- 2 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| Morphological of emphysema | - type of emphysema: centrilobular/panlobular/mixed | 6 months +/- 2 weeks |
| Topographical characteristics of emphysema | predominant distribution of emphysema: upper regions/lower regions/no predominant distribution |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Victor VALENTIN, MD | Contact | 3.20.44.50.36 | +33 | victor.valentin@chu-lille.fr |
| Name | Affiliation | Role |
|---|---|---|
| Victor VALENTIN, MD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lille University Hospital | Lille | 59000 | France |
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| ID | Term |
|---|---|
| D004646 | Emphysema |
| D006976 | Hypertension, Pulmonary |
| D001249 | Asthma |
| ID | Term |
|---|---|
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| D012129 | Respiratory Function Tests |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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|
|
| 6 months +/- 2 weeks |
| 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) | 6 months +/- 2 weeks |
| Probabilistic diagnosis of pulmonary hypertension | 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. | 6 months +/- 2 weeks |
| Prevalence of pulmonary hypertension | 6 months +/- 2 weeks |
| Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test | Percentage of patients with obstructive ventilatory dysfunction defined by a post-bronchodilator FEV1/FVC ratio \ | 6 months +/- 2 weeks |
| Frequency of unexplained emphysema in patients carrying a FLNA mutation | 6 months +/- 2 weeks |
| D006973 | Hypertension |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D001982 | Bronchial Diseases |
| D008173 | Lung Diseases, Obstructive |
| D012130 | Respiratory Hypersensitivity |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |
| D003948 | Diagnostic Techniques, Respiratory System |