DNA Methylation and Lung Disease in Cystic Fibrosis

NCT02884622 | Completed

• 1 other identifier: 9133
• Study Type: interventional
• Target: 72
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Cystic Fibrosis

Keywords

Lung disease; Epigenetics; DNA methylation; Modifier genes

Outcome Measures

Primary Outcomes (1)

• DNA methylation levels (chemical changes)

  DNA methylation levels (chemical changes)

  D0 (day of inclusion)

Study Arms (1)

CF patients

OTHER

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; Other: Blood sampling

Interventions

nasal epithelial OTHER

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

CF patients

Blood sampling OTHER

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

CF patients

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Montpellier: lead
• Vaincre la Mucoviscidose: collaborator
• Institut National de la Santé Et de la Recherche Médicale, France: collaborator

Study Sites (1)

UHMontpellier

Montpellier, 34295, France

Location

Related Publications (1)

• 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.

  PMID: 30052057 DERIVED

MeSH Terms

Conditions

Cystic Fibrosis; Lung Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Raphaël CHIRON, MD

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 16, 2016
• First Posted: August 31, 2016
• Study Start: June 1, 2013
• Primary Completion: June 1, 2016
• Study Completion: August 1, 2016
• Last Updated: August 31, 2016

Record last verified: 2013-03

Locations

FR (1)