In Vitro Model of the Cystic Fibrosis Bronchial Epithelium Via iPS Technology

Study Overview
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Brief Summary
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In order to further enable physiopathology studies, the aim of this project is to validate an in vitro model of cystic fibrosis created using induced pluripotent stemcell (iPS) differentiated bronchial epithelium from cystic fibrosis (CF) patients homozygous for the p.Phe508del mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Detailed Description
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The investigator's primary objective is to generate iPS lines from 3 CF patients and from 3 healthy subjects. Secondary objectives include verification that cell lines express the CFTR gene according to their genotype, verification or relative production of the CFTR protein for each iPS line, and amplification of obtain iPS lines for aliquot creation to facilitate sharing.

Official Title
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Initiation of an in Vitro Model of the Cystic Fibrosis Bronchial Epithelium Via Induced Pluripotent Stem Cell Technology

Conditions
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Cystic Fibrosis

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria for subjects with Cystic Fibrosis: Homozygote for the p.Phe508del mutation Signed informed consent given by the subject Inclusion Criteria for subjects without Cystic Fibrosis: Signed informed consent given by the subject Exclusion Criteria: Pregnancy, breastfeeding Participant in an exclusion period determined by a previous study Participant under any kind of guardianship Unaffiliated with or not a beneficiary of a social security program (health insurance) Subject deprived of liberty (e.g. prisoners) Subject with positive infectious markers for HIV1, HIV2, HBC or HBV Exclusion Criteria for subjects with Cystic Fibrosis: Any pathology requiring a treatment or a pathology not requiring treatment but with clinical significance according to the investigator

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cystic fibrosis<br>Three cystic fibrosis patients who are homozygous for the p.Phe508del mutation. | |
| Healthy subjects<br>Three healthy subjects. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Obtention of induced pluripotent stem cell line (iPS): yes/no | Was a pluripotent stem cell line obtained? yes/no | 28 days | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Functional bronchial epithelium present for the iPS? yes/no | Was a functional bronchial epithelium present for the iPS? yes/no | 28 days | 
| Cystic fibrosis transmembrane conductance regulator (CFTR) channel function: yes/no | CFTR channel function demonstrated via response following exposure to modified oligonucleotides targeting the mutated CFTR transcript. | 28 days |