EMPHYSEMA AND FLNA MUTATION

Emphysema Clinical Trial

— E-FNLA  

Official title:

Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05550844
• Other study ID #: 2021_0511
• Secondary ID: 2022-A00972-41
• Status: Not yet recruiting
• Start date: February 2023
• Est. completion date: February 2025

Study information

• Verified date: September 2022
• Source: University Hospital, Lille
• Contact: Cécile Chenivesse, MD,PhD
• Phone: 0320445962
• Email: cecile.chenivesse[@]chru-lille.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 10
• Est. completion date: February 2025
• Est. primary completion date: February 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Emphysema
• Pulmonary Emphysema

Intervention

Radiation:
• Chest HRCT
A chest HRCT to identify emphysema

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

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

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
University Hospital, Lille	Santelys Association

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Frequency of emphysema in patients carrying FLNA mutation	The presence or absence of emphysema is determined by the chest CT scan.	Baseline
Secondary	Morphological of emphysema	type of emphysema: centrilobular/panlobular/mixed	Baseline
Secondary	Topographical characteristics of emphysema	predominant distribution of emphysema: upper regions/lower regions/no predominance	Baseline
Secondary	The 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)	Baseline
Secondary	Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test		Baseline
Secondary	Frequency of unexplained emphysema in patients carrying a FLNA mutation		Baseline