University Hospital, Lille
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.
Emphysema
Chest HRCT
blood analysis
Lung function tests
| Study Type : | Observational |
| Estimated Enrollment : | 10 participants |
| Official Title : | Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation |
| Actual Study Start Date : | February 2023 |
| Estimated Primary Completion Date : | February 2025 |
| Estimated Study Completion Date : | February 2025 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 18 Years |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.