Observational studyOrphanet journal of rare diseases2025
Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.
Observational study in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05550844 (Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation), which is not on this map. Not yet cited in PubMed.
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The trial behind it
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Frequency and Characteristics of Emphysema in Patients With a FLNA Gene Mutation
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0 citing papers in PubMed.
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Authors and funding
16 authors.
Funding
Abstract
introductionFLNA pathogenic variants lead to various congenital malformations. Pulmonary manifestations were reported in early age. In adults, few cases of emphysema were published. We aimed to assess the frequency and characteristics of emphysema in adults with a pathogenic or probably pathogenic variant in FLNA.
methodWe conducted a transversal single-center study. Adults with FLNA pathogenic variant followed in Lille University Hospital were identified among the French rare disease database BaMaRa
resultsAmong the 29 patients identified, 10 met non-inclusion criteria, 4 declined, 5 could not be reached and so 10 patients were included. The frequency of emphysema was 70%. It was most often centrilobular and located in upper lobes (n = 4) with a median volume of 8.8% (IQR: 3.0-18.0%) of the total lung volume. The frequency of unexplained emphysema was estimated to be 57.1% of emphysema cases. PFT revealed airflow limitation (n = 3), reduced DLCO (n = 5) and small airway disease on IOS (n = 5).
conclusionThese preliminary results suggest that adults with FLNA pathogenic variant frequently develop emphysema, allowing for a larger study to be considered.
trial registrationClinicalTrials.gov, NCT05550844, Registered 19 September 2022 https://clinicaltrials.gov/study/NCT05550844?cond=FLNA&rank=1 .
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