An interventional study of Radiation: Chest HRCT in Emphysema, sponsored by University Hospital, Lille. Not yet recruiting at 1 site in France. Open to participants aged 18 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-05-26.
Sponsored by University Hospital, Lille · Not applicable, Interventional, and Diagnostic
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.
382 studies on the registry are indexed under Emphysema; 59 are open to participants now.
This study's planned enrollment of 70 is above the median of 60 across 245 interventional studies indexed under Emphysema.
Browse Emphysema studies →University Hospital, Lille is the lead sponsor of 631 studies on the registry; 142 are open to participants now.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Diagnostic Test: Radiation: 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
Also known as: Blood analysis, Lung function tests, Cardiac ultrasound
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)
Time frame: 6 months +/- 2 weeks
Morphological of emphysema
\- type of emphysema: centrilobular/panlobular/mixed
Time frame: 6 months +/- 2 weeks
Topographical characteristics of emphysema
predominant distribution of emphysema: upper regions/lower regions/no predominant distribution
Time frame: 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)
Time frame: 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.
Time frame: 6 months +/- 2 weeks
Prevalence of pulmonary hypertension
Time frame: 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 \<LLN " (LLN = lower limit of normal
Time frame: 6 months +/- 2 weeks
Frequency of unexplained emphysema in patients carrying a FLNA mutation
Time frame: 6 months +/- 2 weeks
Plan to share: No
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This study is not yet recruiting, as verified in May 2026. You cannot join it, but the record below documents what was studied.
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