NCT07592637

Brief Summary

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.

Trial Health

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Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
70

participants targeted

Target at P50-P75 for not_applicable

Timeline
30mo left

Started Sep 2026

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
not yet recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

April 22, 2026

Completed
26 days until next milestone

First Posted

Study publicly available on registry

May 18, 2026

Completed
4 months until next milestone

Study Start

First participant enrolled

September 1, 2026

Expected
2.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2029

Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2029

Last Updated

May 18, 2026

Status Verified

April 1, 2026

Enrollment Period

2.5 years

First QC Date

April 22, 2026

Last Update Submit

May 11, 2026

Conditions

Emphysema

Keywords

EmphysemaFLNAFilaminopathies APulmonary hypertensionAsthma

Outcome Measures

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)

    6 months +/- 2 weeks

Secondary Outcomes (5)

  • Morphological and topographical characteristics of emphysema

    6 months +/- 2 weeks

  • Severity of emphysema

    6 months +/- 2 weeks

  • Prevalence of pulmonary hypertension

    6 months +/- 2 weeks

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

    6 months +/- 2 weeks

  • Frequency of unexplained emphysema in patients carrying a FLNA mutation

    6 months +/- 2 weeks

Study Arms (1)

Patients

EXPERIMENTAL
Diagnostic Test: Radiation: Chest HRCT

Interventions

Radiation: Chest HRCTDIAGNOSTIC_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

Also known as: Blood analysis, Lung function tests, Cardiac ultrasound
Patients

Eligibility Criteria

Age18 Years - 99 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Lille University Hospital

Lille, 59000, France

Location

MeSH Terms

Conditions

EmphysemaHypertension, PulmonaryAsthma

Interventions

Hematologic TestsRespiratory Function Tests

Condition Hierarchy (Ancestors)

Pathologic ProcessesPathological Conditions, Signs and SymptomsLung DiseasesRespiratory Tract DiseasesHypertensionVascular DiseasesCardiovascular DiseasesBronchial DiseasesLung Diseases, ObstructiveRespiratory HypersensitivityHypersensitivity, ImmediateHypersensitivityImmune System Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesDiagnostic Techniques, Respiratory System

Study Officials

  • Victor VALENTIN, MD

    University Hospital, Lille

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Victor VALENTIN, MD

CONTACT

3.20.44.50.36victor.valentin@chu-lille.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 22, 2026

First Posted

May 18, 2026

Study Start (Estimated)

September 1, 2026

Primary Completion (Estimated)

March 1, 2029

Study Completion (Estimated)

March 1, 2029

Last Updated

May 18, 2026

Record last verified: 2026-04

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)