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

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ClinicalTrials.gov Identifier: NCT03652090
Recruitment Status : Completed
First Posted : August 29, 2018
Last Update Posted : March 12, 2019
Sponsor:
Collaborator:
ABCF2
Information provided by (Responsible Party):
Isabelle Sermet-Gaudelus, Institut National de la Santé Et de la Recherche Médicale, France

Brief Summary:
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

Condition or disease Intervention/treatment
Cystic Fibrosis Procedure: cell sampling

Detailed 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.


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Study Type : Observational
Actual Enrollment : 112 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Evaluation of the Primary Human Nasal Epithelial Cell Culture Model in the Context of Personalized Therapy in Cystic Fibrosis
Actual Study Start Date : September 1, 2010
Actual Primary Completion Date : March 3, 2016
Actual Study Completion Date : March 3, 2016

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cystic Fibrosis

Group/Cohort Intervention/treatment
cystic fibrosis patients
Cystic fibrosis patients carrying to 2 CFTR mutations undergoing cell sampling
Procedure: cell sampling
nasal brushing to collect cells

healthy heterozygotes
healthy heterozygotes carrying 1 CFTR mutations undergoing cell sampling
Procedure: cell sampling
nasal brushing to collect cells

healthy control
subject with no evidence of any symptoms compatible with Cystic Fibrosis undergoing cell sampling
Procedure: cell sampling
nasal brushing to collect cells




Primary Outcome Measures :
  1. variation in the short-circuit-current (Isc) after Forskolin (Forskolin)/IBMx and VX-770 (∆IscFsk/IBMx+VX-770) [ Time Frame: 1 day ]
    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.


Secondary Outcome Measures :
  1. percentage of cells displaying apical staining [ Time Frame: 1 day ]
    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.


Biospecimen Retention:   None Retained
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population

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 compatibel with Cystic Fibrosis
Criteria

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

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Responsible Party: Isabelle Sermet-Gaudelus, Professor, Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT03652090     History of Changes
Other Study ID Numbers: 2010-05-03 A3
First Posted: August 29, 2018    Key Record Dates
Last Update Posted: March 12, 2019
Last Verified: March 2019
Keywords provided by Isabelle Sermet-Gaudelus, Institut National de la Santé Et de la Recherche Médicale, France:
biomarker
Additional relevant MeSH terms:
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Cystic Fibrosis
Fibrosis
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Lung Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases