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| ID | Type | Description | Link |
|---|---|---|---|
| 2022-A00972-41 | Other Identifier | ID-RCB number, ANSM |
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| Name | Class |
|---|---|
| Santelys Association | OTHER |
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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Chest HRCT | Radiation | A chest HRCT to identify emphysema | ||
| blood analysis | Genetic | If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation) | ||
| Lung function tests | Other | Lung function tests will be performed in accordance with ATS/ERS technical standard |
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients carrying FLNA mutation identified in Lille University Hospital in BAMARA registry
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| Name | Affiliation | Role |
|---|---|---|
| Cécile Chenivesse, MD,PhD | University Hospital, Lille | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Lille University Hospital | Lille | Hauts-de-France | 59037 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41194194 | Derived | Michalski A, Vincent-Delorme C, Demoulin-Alexikova S, Smol T, Felloni P, Le Rouzic O, Perez T, Bautin N, Wemeau L, Balduyck M, Zerimech F, Pontana F, Delsart P, Cailliau E, Chenivesse C, Valentin V. Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study. Orphanet J Rare Dis. 2025 Nov 5;20(1):560. doi: 10.1186/s13023-025-04068-6. |
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| ID | Term |
|---|---|
| D004646 | Emphysema |
| ID | Term |
|---|---|
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| D012143 | Respiratory Physiological Phenomena |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Whole blood if emphysema is identified to look for known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)
| 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 |
| D002943 | Circulatory and Respiratory Physiological Phenomena |