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DNA Methylation and Lung Disease in Cystic Fibrosis

NCT ID: NCT02884622

Last Updated: 2016-08-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

72 participants

Study Classification

INTERVENTIONAL

Study Start Date

2013-06-30

Study Completion Date

2016-08-31

Brief Summary

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Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease-modifier genes and environmental exposure. The contribution of genetic factors has been extensively investigated, whereas the mechanism whereby environmental factors modulate the lung disease is unknown. Because these factors can affect the epigenome, investigators hypothesized that DNA methylation variations at disease-modifier genes modulate the lung function in CF patients.

Detailed Description

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Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease-modifier genes and environmental exposure. The contribution of genetic factors has been extensively investigated, whereas the mechanism whereby environmental factors modulate the lung disease is unknown. Because these factors can affect the epigenome, investigators hypothesized that DNA methylation variations at disease-modifier genes modulate the lung function in CF patients.

The investigators analyzed DNA methylation levels in the promoter of fourteen lung disease-modifier genes and showed that DNA methylation levels are altered in nasal epithelial and blood cell samples from CF patients. This study disclosed slightly, but significantly differentially methylated regions that collectively may modulate lung disease severity. It also highlighted that complex relationships between genetic and epigenetic factors contribute to the phenotypic variability of CF patients.

Conditions

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Cystic Fibrosis

Keywords

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Lung disease Epigenetics DNA methylation Modifier genes

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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CF patients

CF patients with the same procedures as in the usual management of routine care, only the sampling nasal epithelial cells will be added and blood sampling will be collected for this study

Group Type OTHER

nasal epithelial

Intervention Type OTHER

CF patients with the same procedures as in the usual management of routine care, only the sampling nasal epithelial cells will be added

Blood sampling

Intervention Type OTHER

CF patients with the same procedures as in the usual management of routine care, only the sampling 5ml additional blood will be taken

Interventions

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nasal epithelial

CF patients with the same procedures as in the usual management of routine care, only the sampling nasal epithelial cells will be added

Intervention Type OTHER

Blood sampling

CF patients with the same procedures as in the usual management of routine care, only the sampling 5ml additional blood will be taken

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* \>18 years old
* homozygous for the F508del mutation

Exclusion Criteria

* subjects who have an active CF exacerbation or a recent viral infection on the day of biological samples collection;
* pregnant women;
* patients who are included in interventional medical trials;
* patients who had lung transplantation.
Minimum Eligible Age

18 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Vaincre la Mucoviscidose

OTHER

Sponsor Role collaborator

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

OTHER_GOV

Sponsor Role collaborator

University Hospital, Montpellier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Raphaël CHIRON, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Montpellier

Locations

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UHMontpellier

Montpellier, , France

Site Status

Countries

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France

References

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Magalhaes M, Tost J, Pineau F, Rivals I, Busato F, Alary N, Mely L, Leroy S, Murris M, Caimmi D, Claustres M, Chiron R, De Sario A. Dynamic changes of DNA methylation and lung disease in cystic fibrosis: lessons from a monogenic disease. Epigenomics. 2018 Aug;10(8):1131-1145. doi: 10.2217/epi-2018-0005. Epub 2018 Jul 27.

Reference Type DERIVED
PMID: 30052057 (View on PubMed)

Other Identifiers

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9133

Identifier Type: -

Identifier Source: org_study_id