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NCT Number: NCT07592637

Lung Disease and FLNA Mutations

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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Key information

Conditions

Emphysema Asthma Bronchial Diseases Cardiovascular Diseases Hypersensitivity Hypersensitivity, Immediate Hypertension Hypertension, Pulmonary Immune System Diseases Lung Diseases Lung Diseases, Obstructive Pathologic Processes Pathological Conditions, Signs and Symptoms Respiratory Hypersensitivity Respiratory Tract Diseases Vascular Diseases

Age range

18 year–99 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

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

Treatment and study plan

Radiation: Chest HRCT

Diagnostic Test
  • 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) NTproBNP for all patients

  • Lung function tests

Lung function tests will be performed in accordance with ATS/ERS technical standard

  • Cardiac ultrasound

Other names: Blood analysis, Lung function tests, Cardiac ultrasound

Primary outcomes

  1. Frequency of emphysema in patients carrying FLNA mutation

    Time frame: 6 months +/- 2 weeks

    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)

Secondary outcomes

  1. Morphological of emphysema

    Time frame: 6 months +/- 2 weeks

    • type of emphysema: centrilobular/panlobular/mixed

  2. Topographical characteristics of emphysema

    Time frame: 6 months +/- 2 weeks

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

  3. Severity of emphysema

    Time frame: 6 months +/- 2 weeks

    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)

  4. Probabilistic diagnosis of pulmonary hypertension

    Time frame: 6 months +/- 2 weeks

    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.

  5. Prevalence of pulmonary hypertension

    Time frame: 6 months +/- 2 weeks

  6. Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test

    Time frame: 6 months +/- 2 weeks

    Percentage of patients with obstructive ventilatory dysfunction defined by a post-bronchodilator FEV1/FVC ratio <LLN " (LLN = lower limit of normal

  7. Frequency of unexplained emphysema in patients carrying a FLNA mutation

    Time frame: 6 months +/- 2 weeks

Study contacts

Contact information is provided by the study sponsor or research team.

Victor VALENTIN, MD

CONTACT

[email protected]

3.20.44.50.36 ext. +33

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Registry information

Official study title

Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study

Acronym: FLN-Air

Important dates

Study start
2026
Primary completion
2029
Study completion
2029
First posted
May 18, 2026
Registry last updated
May 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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