NCT05550844

Emphysema and FLNA Mutation (E-FLNA)

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 8 (actual)
• Sponsor: University Hospital, Lille · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Emphysema

Interventions

Type	Name	Description
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

Timeline

• Start date: 2023-02-01
• Primary completion: 2023-10-23
• Completion: 2023-10-23
• First posted: 2022-09-22
• Last updated: 2026-02-20

Locations

1 site across 1 country: France