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Lung Disease and FLNA Mutations

ConditionEmphysema
Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-99
SponsorUniversity Hospital, Lille

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial design

Design model

Single group

Treatments tested in this trial

  • Radiation: Chest HRCT

    Diagnostic test

    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

Treatment groups

70 Participants
are divided into 1 treatment group
Group A: PatientsExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

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

Secondary outcomes

1

Morphological of emphysema

\- type of emphysema: centrilobular/panlobular/mixed

Time frame
6 months +/- 2 weeks
2

Topographical characteristics of emphysema

predominant distribution of emphysema: upper regions/lower regions/no predominant distribution

Time frame
6 months +/- 2 weeks
3

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
4

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

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital, Lille

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: