Cystic FibrosisMETHYLCFNCT02884622
DNA Methylation and Lung Disease in Cystic Fibrosis
A study testing nasal epithelial and Blood sampling in people with Cystic Fibrosis, run by University Hospital, Montpellier at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Cystic Fibrosis
- What is being tested?
- nasal epithelial and Blood sampling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 72 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2013to Aug 2016
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- >18 years old
- homozygous for the F508del mutation
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Cystic Fibrosis
- Being tested
- nasal epithelial, Blood sampling
- Keywords
- Lung disease, Epigenetics, DNA methylation, Modifier genes
- Medical subject headings
- Cystic Fibrosis, Lung Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nasal epithelialOther
CF patients with the same procedures as in the usual management of routine care, only the sampling nasal epithelial cells will be added
Blood samplingOther
CF patients with the same procedures as in the usual management of routine care, only the sampling 5ml additional blood will be taken
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: nasal epithelial; Other: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
DNA methylation levels (chemical changes)
DNA methylation levels (chemical changes)
Measured: D0 (day of inclusion)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2016 (estimated)
- Study startJun 2013
- Primary completionJun 2016
- Study completionAug 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 72 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Collaborators
- Vaincre la Mucoviscidose, Institut National de la Santé Et de la Recherche Médicale, France
- Responsible party
- Sponsor
- Investigators
- Raphaël CHIRON, MD, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02884622
- Sponsor's protocol ID
- 9133
- Acronym
- METHYLCF
- Status last verified
- Mar 2026
- First submitted
- 16 Aug 2016
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Magalhaes M, Rivals I, Claustres M, Varilh J, Thomasset M, Bergougnoux A, Mely L, Leroy S, Corvol H, Guillot L, Murris M, Beyne E, Caimmi D, Vachier I, Chiron R, De Sario A. DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis. Clin Epigenetics. 2017 Feb 14;9:19. doi: 10.1186/s13148-016-0300-8. eCollection 2017.
PubMed 28289476Pineau F, Caimmi D, Magalhaes M, Fremy E, Mohamed A, Mely L, Leroy S, Murris M, Claustres M, Chiron R, De Sario A. Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis. PLoS One. 2020 Apr 17;15(4):e0231285. doi: 10.1371/journal.pone.0231285. eCollection 2020.
PubMed 32302349Magalhaes 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.
PubMed 30052057
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- DNA Methylation and Lung Disease in Cystic Fibrosis
- ClinicalTrials.gov ID
- NCT02884622
- Acronym / sponsor ID
- METHYLCF / 9133
- Conditions
- Cystic Fibrosis
- Keywords
- Lung disease, Epigenetics, DNA methylation, Modifier genes
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 72 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Collaborators
- Vaincre la Mucoviscidose, Institut National de la Santé Et de la Recherche Médicale, France
- Study start
- Jun 2013
- Primary completion
- Jun 2016 (actual)
- Study completion
- Aug 2016 (actual)
- First posted
- 31 Aug 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| CF patients | Other | Other: nasal epithelial, Other: Blood samplingCF 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 |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- >18 years old
- homozygous for the F508del mutation
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| nasal epithelialCF patients with the same procedures as in the usual management of routine care, only the sampling nasal epithelial cells will be added | Other | CF patients |
| Blood samplingCF patients with the same procedures as in the usual management of routine care, only the sampling 5ml additional blood will be taken | Other | CF patients |
Primary outcome
DNA methylation levels (chemical changes)
Time frame: D0 (day of inclusion)
DNA methylation levels (chemical changes)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2026.
- Results publication: PubMed 28289476Magalhaes M, Rivals I, Claustres M, Varilh J, Thomasset M, Bergougnoux A, Mely L, Leroy S, Corvol H, Guillot L, Murris M, Beyne E, Caimmi D, Vachier I, Chiron R, De Sario A. DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis. Clin Epigenetics. 2017 Feb 14;9:19. doi: 10.1186/s13148-016-0300-8. eCollection 2017.
- Results publication: PubMed 32302349Pineau F, Caimmi D, Magalhaes M, Fremy E, Mohamed A, Mely L, Leroy S, Murris M, Claustres M, Chiron R, De Sario A. Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis. PLoS One. 2020 Apr 17;15(4):e0231285. doi: 10.1371/journal.pone.0231285. eCollection 2020.
- Derived from this study: PubMed 30052057Magalhaes 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.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Raphaël CHIRON, MD principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing nasal epithelial and Blood sampling in people with Cystic Fibrosis, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
DNA methylation levels (chemical changes) (time frame: D0 (day of inclusion)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02884622, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2026.