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EMPHYSEMA AND FLNA MUTATION — E-FNLA  

Emphysema Clinical Trial

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

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.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT05550844
Study type Observational
Source University Hospital, Lille
Contact Cécile Chenivesse, MD,PhD
Phone 0320445962
Email cecile.chenivesse@chru-lille.fr
Status Not yet recruiting
Phase
Start date February 2023
Completion date February 2025
View Details
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