EMPHYSEMA AND FLNA MUTATION

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

8 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-01

Study Completion Date

2023-10-23

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Management of Patients With Alpha-1 Antitrypsin Deficiency Associated Emphysema

NCT00700934

Alpha 1-Antitrypsin Deficiency Emphysema

UNKNOWN

Inhalation Profiling of Idiopathic Pulmonary Fibrosis (IPF) Patients

NCT02058602

Idiopathic Pulmonary Fibrosis

COMPLETED PHASE1

Prevalence of Alpha-1 Antitrypsin Dysfunction in Pulmonary Emphysema

NCT02382367

Pulmonary Emphysema

COMPLETED NA

Dyspnea and Idiopathic Pulmonary Fibrosis

NCT04864990

Pulmonary Fibrosis

RECRUITING

A Multicenter Prospective Study of Risk Factors in Progressive Pulmonary Fibrosis

NCT05895409

Interstitial Lung Disease

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Emphysema

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Chest HRCT

A chest HRCT to identify emphysema

Intervention Type RADIATION

blood analysis

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

Intervention Type GENETIC

Lung function tests

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

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No