Primary Nasal Cell Culture as a Tool for Personalized Therapy in Cystic Fibrosis (Epiithelix)

Institut National de la Santé Et de la Recherche Médicale, France

Status

Completed

Conditions

Cystic Fibrosis

Treatments

Procedure: cell sampling

Study type

Observational

Funder types

Other

Identifiers

NCT03652090

2010-05-03 A3

Details and patient eligibility

About

characterization of CFTR function and expression in nasal primary cells collected from patients with cystic fibrosis in comparison to their parents, healthy heterozygotes and healthy controls

Full description

3 groups of subjects are enrolled CF subjects according to their genotypes (aiming to enroll patients carrying 2 CF causing mutations with no CFTR expression/function, and patients carrying at least 1 mutation with residual function, such R117H) Parents or siblings of the CF subjects, as healthy hétérozygotes healthy controls All these subjects experience nasal brushings. From these nasal brushings,nasal cells are expanded, and cultured in air liquid interface to obtain polarized epithelium. This epithelium is then studied in Ussing chamber experiments to characterize the level of cAMP dependant Chloride transport and Sodium reabsorption. Apical expression of CFTR is assessed by immunofluorescence.

Results will allow to define the variability of CFTR function and expression criteria in subjects with the same genotype. Such data are crucial for interpretation of the effect of CFTR modulators.

Enrollment

112 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion criteria

patients with Cystic Fibrosis with 2 mutations in CFTR
healthy heterozygotes with 1 mutation in CFTR
healthy subjects with no familial history of Cystic Fibrosis and no symptoms suggesting Cystic Fibrosis

Exclusion criteria