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Report for Clinical Trial NCT03652090

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Evaluation of the Primary Human Nasal Epithelial Cell Culture Model in the Context of Personalized Therapy in Cystic Fibrosis

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

NCT03652090 Cystic Fibrosis
MeSH:Cystic Fibrosis Fibrosis

1 Interventions

Name: cell sampling

Description: nasal brushing to collect cells
Type: Procedure
Group Labels: 3

cystic fibrosis patients healthy control healthy heterozygotes


Primary Outcomes

Description: The short-circuit-current (Isc) was measured under voltage clamp conditions. Inhibitors and activators were added after stabilization of baseline Isc. The sum of the change after Forskolin (Forskolin)/IBMx and VX-770 (∆IscFsk/IBMx+VX-770) served as an index of CFTR function.

Measure: variation in the short-circuit-current (Isc) after Forskolin (Forskolin)/IBMx and VX-770 (∆IscFsk/IBMx+VX-770)

Time: 1 day

Secondary Outcomes

Description: CFTR immuno-detection was performed as previously described 31. Apical CFTR staining was assessed semi quantitatively as the percentage of cells displaying apical staining multiplied by the average corrected apical fluorescence 32.

Measure: percentage of cells displaying apical staining

Time: 1 day

Time Perspective: Cross-Sectional

Cohort


There is one SNP

SNPs


1 R117H

Apical CFTR staining was assessed semi quantitatively as the percentage of cells displaying apical staining multiplied by the average corrected apical fluorescence 32.. 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: - smoking 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: - smoking Cystic Fibrosis Cystic Fibrosis Fibrosis 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. --- R117H ---



HPO Nodes