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Completed

NCT Number: NCT05550844

Emphysema and FLNA Mutation (E-FLNA)

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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Key information

Conditions

Emphysema Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Lille University Hospital

Lille, Hauts-de-France, 59037, France

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

  • patients 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

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

Primary outcomes

  1. Frequency of emphysema in patients carrying FLNA mutation

    Time frame: Baseline

    The presence or absence of emphysema is determined by the chest CT scan.

Secondary outcomes

  1. Morphological of emphysema

    Time frame: Baseline

    type of emphysema: centrilobular/panlobular/mixed

  2. Topographical characteristics of emphysema

    Time frame: Baseline

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

  3. The severity of emphysema

    Time frame: Baseline

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

    Time frame: Baseline

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

    Time frame: Baseline

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Collaborators

  • Santelys Association

Registry information

Official study title

Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation

Acronym: E-FNLA

Important dates

Study start
2023
Primary completion
2023
Study completion
2023
First posted
Sep 22, 2022
Registry last updated
Feb 20, 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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