DNA Methylation and Lung Disease in Cystic Fibrosis (METHYLCF)

August 30, 2016 updated by: University Hospital, Montpellier
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Interventional

Enrollment (Actual)

72

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Montpellier, France, 34295
        • Uhmontpellier

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 100 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: 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
Other: 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
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
DNA methylation levels (chemical changes)
Time Frame: D0 (day of inclusion)
DNA methylation levels (chemical changes)
D0 (day of inclusion)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Collaborators

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

Investigators

  • Principal Investigator: Raphaël CHIRON, MD, University Hospital, Montpellier

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2013

Primary Completion (Actual)

June 1, 2016

Study Completion (Actual)

August 1, 2016

Study Registration Dates

First Submitted

August 16, 2016

First Submitted That Met QC Criteria

August 30, 2016

First Posted (Estimate)

August 31, 2016

Study Record Updates

Last Update Posted (Estimate)

August 31, 2016

Last Update Submitted That Met QC Criteria

August 30, 2016

Last Verified

March 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 9133

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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