NCT05550844

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
8

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Feb 2023

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

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

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 19, 2022

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 22, 2022

Completed
4 months until next milestone

Study Start

First participant enrolled

February 1, 2023

Completed
9 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 23, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 23, 2023

Completed
Last Updated

February 20, 2026

Status Verified

September 1, 2022

Enrollment Period

9 months

First QC Date

September 19, 2022

Last Update Submit

February 18, 2026

Conditions

Emphysema

Keywords

EmphysemaLung functionFilamin A

Outcome Measures

Primary Outcomes (1)

  • Frequency of emphysema in patients carrying FLNA mutation

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

    Baseline

Secondary Outcomes (5)

  • Morphological of emphysema

    Baseline

  • Topographical characteristics of emphysema

    Baseline

  • The severity of emphysema

    Baseline

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

    Baseline

  • Frequency of unexplained emphysema in patients carrying a FLNA mutation

    Baseline

Interventions

Chest HRCTRADIATION

A chest HRCT to identify emphysema

blood analysisGENETIC

If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)

Lung function testsOTHER

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

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients carrying FLNA mutation identified in Lille University Hospital in BAMARA registry

You may qualify if:

  • 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

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, Hauts-de-France, 59037, France

Location

Related Publications (1)

  • Michalski A, Vincent-Delorme C, Demoulin-Alexikova S, Smol T, Felloni P, Le Rouzic O, Perez T, Bautin N, Wemeau L, Balduyck M, Zerimech F, Pontana F, Delsart P, Cailliau E, Chenivesse C, Valentin V. Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study. Orphanet J Rare Dis. 2025 Nov 5;20(1):560. doi: 10.1186/s13023-025-04068-6.

    PMID: 41194194DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood if emphysema is identified to look for known causes of emphysema (Alpha-1 antitrypsin deficiency, PTPN6 mutation)

MeSH Terms

Conditions

Emphysema

Interventions

Hematologic TestsRespiratory Physiological Phenomena

Condition Hierarchy (Ancestors)

Pathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesCirculatory and Respiratory Physiological Phenomena

Study Officials

  • Cécile Chenivesse, MD,PhD

    University Hospital, Lille

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 19, 2022

First Posted

September 22, 2022

Study Start

February 1, 2023

Primary Completion

October 23, 2023

Study Completion

October 23, 2023

Last Updated

February 20, 2026

Record last verified: 2022-09

Locations

FR(1)