Combined Pulmonary Fibrosis and Emphysema SyndromeGENES-SEFNCT02439528
Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome
A study testing Genetic analysis in people with Combined Pulmonary Fibrosis and Emphysema Syndrome and Pulmonary Fibrosis, run by Hospices Civils de Lyon at 3 sites in France.
Trial summary
The combined pulmonary fibrosis and emphysema syndrome (CPFE) individualized by our group in 2005 is characterized by an often severe dyspnea, almost exclusive male predominance, and often major, profound impairment of gas exchange contrasting with preserved lung volumes and absence of airflow obstruction, and a high… Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Combined Pulmonary Fibrosis and Emphysema Syndrome, Pulmonary Fibrosis, Emphysema
- What is being tested?
- Genetic analysis
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 250 participants
- Where
- 3 sitesFrance
- Study dates
- 25 Mar 2015to 6 Dec 2018
- 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 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Age between 18 and 80 years old.
- Patient with Idiopathic Pulmonary Fibrosis Or
- Patient with emphysema Or
- Patient with combined pulmonary fibrosis and emphysema syndrome Or
- Patient reporting no chronic lung disease
Who cannot join
- Other causes of interstitial lung disease or context:
- Connective
- Pneumonia drug
- Pneumoconiosis
- Sarcoidosis
- histiocytosis, lymphangioleiomyomatosis, etc.
Show all 11Show fewer
- Refusal to participate in the study or to sign the consent
- Inability to give informed about the information
- Woman breastfeeding or pregnant
- No coverage for Social Security
- Deprivation of Civil Rights
Trial locations and contacts
3 sites in 1 country.
France3 sites
Hôpital pneumologique et cardiovasculaire Louis Pradel, HCL
Bron, 69677
Hôpital Albert Michallon, CHU de Grenoble
Grenoble, 38 043
Hôpital Nord, CHU de Saint-Etienne
Saint-Etienne, 42055
About this study
The combined pulmonary fibrosis and emphysema syndrome (CPFE) individualized by our group in 2005 is characterized by an often severe dyspnea, almost exclusive male predominance, and often major, profound impairment of gas exchange contrasting with preserved lung volumes and absence of airflow obstruction, and a high risk of pre-capillary pulmonary hypertension responsible for increased mortality. Almost all patients are smokers or ex-smokers. There are some arguments in favor of genetic abnormalities in this syndrome of unknown etiology (other than smoking) including short telomeres and mutations in the telomerase complex genes. There are also emphysematous lesions, in patients with familial pulmonary fibrosis, with mutations in the SFTPC gene (surfactant protein C), and reported cases of CPFE syndrome with SFTPC mutation. No large genetic studies have been conducted to date in the CPFE syndrome. Our main hypothesis is that the proportion of subjects with short telomeres is higher among patients with CPFE syndrome than in subjects of similar age with idiopathic pulmonary fibrosis but without emphysema. It has previously been shown that mutations in the telomerase TERT or TERC genes are mostly found in people whose telomeres are abnormally short. The investigators propose to use that test to identify patients most likely carrying a mutation, and to seek, among them, the mutations in the TERT or TERC telomerase genes. The objective of the study is to compare the proportion of patients with short telomeres in the group of patients with CPFE syndrome to that of other patients (with idiopathic pulmonary fibrosis without emphysema, or with emphysema without fibrosis).
- Conditions
- Combined Pulmonary Fibrosis and Emphysema Syndrome, Pulmonary Fibrosis, Emphysema, Healthy Subjects
- Being tested
- Genetic analysis
- Keywords
- pulmonary fibrosis, syndrome, genetic, emphysema
- Medical subject headings
- Pulmonary Fibrosis, Emphysema, Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic analysisGenetic
One part of these patients is already included in a cohort: for them the blood sample will be centralized and then analyzed.
The other part of these patients will be recruited during the study: for them intervention will be blood samples for further genetic analysis.
| Study group | Role | What they receive |
|---|---|---|
| Combined pulmonary fibrosis and emphysema syndrome | Other | Genetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome. Receives: Genetic: Genetic analysis |
| Pulmonary fibrosis | Other | Genetic analysis on patients with pulmonary fibrosis. Receives: Genetic: Genetic analysis |
| Emphysema | Other | Genetic analysis on patients with emphysema. Receives: Genetic: Genetic analysis |
| Healthy subject | Other | Genetic analysis on healthy subject. Receives: Genetic: Genetic analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Telomere length
The primary endpoint is the percentage of patients with telomere length less than the 10th percentile of the age range for each type of patient
Measured: At inclusion
Secondary outcomes (5)
Mutation of the telomerase complex genes evaluated by gene sequencing.
Frequency of the telomerase complex mutations measured by the percentage of patients having at least one mutation of the complex.
Measured: At inclusion
Mutations in the gene encoding the SFTPC evaluated by gene sequencing
Frequency of mutations in the gene encoding the SFTPC surfactant protein C measured by the percentage of patients having at least one mutation of the complex
Measured: At inclusion
Patients characteristics evaluated by clinical examination
Comparison of each type of patients with controls
Measured: At inclusion
Genetic profile evaluated by gene sequencing.
Description of the mutations found, relations with the phenotype
Measured: At inclusion
Total mortality evaluated by phone call contact
6 months after inclusion, patients will be contacted to know their clinical status.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 May 2015 (estimated)
- Study start25 Mar 2015
- Primary completion6 Dec 2018
- Study completion6 Dec 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Combined Pulmonary Fibrosis and Emphysema SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 250 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent COTTIN, MD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02439528
- Sponsor's protocol ID
- 2013.819
- Acronym
- GENES-SEF
- Status last verified
- Dec 2025
- First submitted
- 29 Aug 2014
- Last updated
- 19 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome
- ClinicalTrials.gov ID
- NCT02439528
- Acronym / sponsor ID
- GENES-SEF / 2013.819
- Conditions
- Combined Pulmonary Fibrosis and Emphysema Syndrome, Pulmonary Fibrosis, Emphysema, Healthy Subjects
- Keywords
- pulmonary fibrosis, syndrome, genetic, emphysema
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 250 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 25 Mar 2015 (actual)
- Primary completion
- 6 Dec 2018 (actual)
- Study completion
- 6 Dec 2018 (actual)
- First posted
- 8 May 2015 (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.
The combined pulmonary fibrosis and emphysema syndrome (CPFE) individualized by our group in 2005 is characterized by an often severe dyspnea, almost exclusive male predominance, and often major, profound impairment of gas exchange contrasting with preserved lung volumes and absence of airflow obstruction, and a high risk of pre-capillary pulmonary hypertension responsible for increased mortality. Almost all patients are smokers or ex-smokers. There are some arguments in favor of genetic abnormalities in this syndrome of unknown etiology (other than smoking) including short telomeres and mutations in the telomerase complex genes. There are also emphysematous lesions, in patients with familial pulmonary fibrosis, with mutations in the SFTPC gene (surfactant protein C), and reported cases of CPFE syndrome with SFTPC mutation. No large genetic studies have been conducted to date in the CPFE syndrome. Our main hypothesis is that the proportion of subjects with short telomeres is higher among patients with CPFE syndrome than in subjects of similar age with idiopathic pulmonary fibrosis but without emphysema. It has previously been shown that mutations in the telomerase TERT or TERC genes are mostly found in people whose telomeres are abnormally short. The investigators propose to use that test to identify patients most likely carrying a mutation, and to seek, among them, the mutations in the TERT or TERC telomerase genes. The objective of the study is to compare the proportion of patients with short telomeres in the group of patients with CPFE syndrome to that of other patients (with idiopathic pulmonary fibrosis without emphysema, or with emphysema without fibrosis).
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Combined pulmonary fibrosis and emphysema syndrome | Other | Genetic: Genetic analysisGenetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome. |
| Pulmonary fibrosis | Other | Genetic: Genetic analysisGenetic analysis on patients with pulmonary fibrosis. |
| Emphysema | Other | Genetic: Genetic analysisGenetic analysis on patients with emphysema. |
| Healthy subject | Other | Genetic: Genetic analysisGenetic analysis on healthy subject. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Age between 18 and 80 years old.
- Patient with Idiopathic Pulmonary Fibrosis Or
- Patient with emphysema Or
- Patient with combined pulmonary fibrosis and emphysema syndrome Or
- Patient reporting no chronic lung disease
Key exclusion criteria (11 listed)
- Other causes of interstitial lung disease or context:
- Refusal to participate in the study or to sign the consent
- Inability to give informed about the information
- Woman breastfeeding or pregnant
- No coverage for Social Security
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 |
|---|---|---|
| Genetic analysisOne part of these patients is already included in a cohort: for them the blood sample will be centralized and then analyzed. The other part of these patients will be recruited during the study: for them intervention will be blood samples for further genetic analysis. | Genetic | Combined pulmonary fibrosis and emphysema syndrome, Emphysema, Healthy subject, Pulmonary fibrosis |
Primary outcome
Telomere length
Time frame: At inclusion
The primary endpoint is the percentage of patients with telomere length less than the 10th percentile of the age range for each type of patient
5 secondary outcomes
Mutation of the telomerase complex genes evaluated by gene sequencing.
Time frame: At inclusion
Mutations in the gene encoding the SFTPC evaluated by gene sequencing
Time frame: At inclusion
Patients characteristics evaluated by clinical examination
Time frame: At inclusion
Genetic profile evaluated by gene sequencing.
Time frame: At inclusion
Total mortality evaluated by phone call contact
Time frame: 6 months
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 19 Dec 2025.
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.
Vincent COTTIN, MD principal investigator
Hospices Civils de Lyon
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic analysis in people with Combined Pulmonary Fibrosis and Emphysema Syndrome and Pulmonary Fibrosis, run by Hospices Civils de Lyon at 3 sites 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 5 inclusion and 11 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 19 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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?
Telomere length (time frame: At inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 19 Dec 2025.