EMPHYSEMA AND FLNA MUTATION

Not yet recruiting

• Conditions: Emphysema

• Registration Number: NCT05550844
• Lead Sponsor: University Hospital, Lille

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2022-09
• Study First Submitted: 2022-09-19
• Study First Submitted QC: 2022-09-19
• Last Update Submitted: 2022-09-19
• Study First Posted: 2022-09-22
• Last Update Posted: 2022-09-22
• Study Start: 2023-02
• Primary Completion: 2025-02
• Study Completion: 2025-02

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 10

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Frequency of emphysema in patients carrying FLNA mutation	Baseline	The presence or absence of emphysema is determined by the chest CT scan.

Secondary Outcome Measures

Name	Time	Method
Morphological of emphysema	Baseline	type of emphysema: centrilobular/panlobular/mixed
Frequency of unexplained emphysema in patients carrying a FLNA mutation	Baseline
The severity of emphysema	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)
Topographical characteristics of emphysema	Baseline	predominant distribution of emphysema: upper regions/lower regions/no predominance
Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test	Baseline