Lung Disease and FLNA Mutations
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Radiation: Chest HRCT.
- Who it may be relevant to
- Registry conditions: Emphysema. Basic parameters: 18 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Prevalence and Characteristics of Lung Disease Associated With FLNA Mutations: a Multicenter Cross-sectional Study
Overview
Some sparse scientific data support the hypothesis that otherwise unexplained emphysema may be associated with FLNA variants. This transversal multicentric study aimed to describe the frequency of emphysema in patients carrying an FLNA variation. Patients with FLNA variations who accept the study will benefit from a chest physician's clinical examination, respiratory function tests, a cardiac ultrasound and a chest scan. The primary endpoint is to describe emphysema's frequency in patients carrying FLNA variation. The other objectives are to describe emphysema's features in these patients, the prevalence of pulmonary hypertension and to describe their lung function abnormalities. The final goal is to confirm the association between unexplained emphysema and FLNA mutation.
Interventions
- Diagnostic test Radiation: Chest HRCT
1. Radiation: Chest HRCT A chest HRCT to identify emphysema 2. Genetic: blood analysis If emphysema is identified, a blood analysis will be performed to exclude known causes of emphysema (Alpha-1 antitrypsin deficiency) NTproBNP for all patients 3. Lung function tests Lung function tests will be performed in accordance with ATS/ERS technical standard 4. Cardiac ultrasound
Primary outcome measures
- Frequency of emphysema in patients carrying FLNA mutation [Time frame: 6 months +/- 2 weeks]
Secondary outcome measures (7)
- Morphological of emphysema [Time frame: 6 months +/- 2 weeks]
- Topographical characteristics of emphysema [Time frame: 6 months +/- 2 weeks]
- Severity of emphysema [Time frame: 6 months +/- 2 weeks]
- Probabilistic diagnosis of pulmonary hypertension [Time frame: 6 months +/- 2 weeks]
- Prevalence of pulmonary hypertension [Time frame: 6 months +/- 2 weeks]
- Descriptive analysis of functional respiratory abnormalities measured by the functional respiratory test [Time frame: 6 months +/- 2 weeks]
- Frequency of unexplained emphysema in patients carrying a FLNA mutation [Time frame: 6 months +/- 2 weeks]
Eligibility criteria
Inclusion criteria
- Patient 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
France · 1 center
- Lille University Hospital — Lille
Identifiers
NCT: NCT07592637 · 2025_0283