Lung Disease and FLNA Mutations (FLN-Air)

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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Emphysema
• Intervention / Treatment: Diagnostic test: Radiation: Chest HRCT

• Study Type: Interventional
• Enrollment (Estimated): 70
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Victor VALENTIN, MD; Phone Number: +33 3.20.44.50.36; Email: victor.valentin@chu-lille.fr

Study Locations

• France
  • Lille, France, 59000
    • Lille University Hospital
    • Contact: DRI; Phone Number: +33 3.20.44.41.45; Email: drs.promotion@chu-lille.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Patients

Diagnostic test: Radiation: Chest HRCT; Radiation: Chest HRCTA chest HRCT to identify emphysema; Genetic: blood analysisIf 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 testsLung function tests will be performed in accordance with ATS/ERS technical standard; Cardiac ultrasound; Other Names: Cardiac ultrasound; Blood analysis; Lung function tests

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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)	6 months +/- 2 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of pulmonary hypertension		6 months +/- 2 weeks
Frequency of unexplained emphysema in patients carrying a FLNA mutation		6 months +/- 2 weeks
Morphological of emphysema	- type of emphysema: centrilobular/panlobular/mixed	6 months +/- 2 weeks
Topographical characteristics of emphysema	predominant distribution of emphysema: upper regions/lower regions/no predominant distribution	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)	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.	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	6 months +/- 2 weeks

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Victor VALENTIN, MD, University Hospital, Lille

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): March 1, 2029

Study Registration Dates

• First Submitted: April 22, 2026
• First Submitted That Met QC Criteria: May 11, 2026
• First Posted (Actual): May 18, 2026

Study Record Updates

• Last Update Posted (Actual): May 26, 2026
• Last Update Submitted That Met QC Criteria: May 20, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Asthma; Pulmonary hypertension; Emphysema; FLNA; Filaminopathies A
• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Pathologic Processes; Immune System Diseases; Respiratory Tract Diseases; Lung Diseases; Bronchial Diseases; Lung Diseases, Obstructive; Respiratory Hypersensitivity; Hypersensitivity, Immediate; Hypersensitivity; Hypertension; Pathological Conditions, Signs and Symptoms; Asthma; Hypertension, Pulmonary; Emphysema; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Respiratory System; Respiratory Function Tests; Hematologic Tests
• Other Study ID Numbers: 2025_0283

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No