DNA Methylation and Lung Disease in Cystic Fibrosis

Cystic Fibrosis Clinical Trial

— METHYLCF  

Official title:

DNA Methylation and Lung Disease in Cystic Fibrosis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02884622
• Other study ID #: 9133
• Status: Completed
• Phase: N/A
• First received: August 16, 2016
• Last updated: August 30, 2016
• Start date: June 2013
• Est. completion date: August 2016

Study information

• Verified date: March 2013
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Agence Nationale de Sécurité du Médicament et des produits de santé
• Study type: Interventional

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 72
• Est. completion date: August 2016
• Est. primary completion date: June 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 18 Years to 100 Years

Eligibility

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 Design

Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science

Related Conditions & MeSH terms

• Cystic Fibrosis
• Fibrosis
• Lung Diseases

Intervention

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
• 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

Locations

Country	Name	City	State
France	UHMontpellier	Montpellier

Sponsors (3)

Lead Sponsor	Collaborator
University Hospital, Montpellier	Institut National de la Santé Et de la Recherche Médicale, France, Vaincre la Mucoviscidose

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	DNA methylation levels (chemical changes)	DNA methylation levels (chemical changes)	D0 (day of inclusion)	No