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Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome (GENES-SEF)

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ClinicalTrials.gov Identifier: NCT02439528
Recruitment Status : Recruiting
First Posted : May 8, 2015
Last Update Posted : August 22, 2017
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief 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 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).

Condition or disease Intervention/treatment Phase
Combined Pulmonary Fibrosis and Emphysema Syndrome Pulmonary Fibrosis Emphysema Healthy Subjects Genetic: Genetic analysis Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 500 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Other
Official Title: Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome
Study Start Date : March 2015
Estimated Primary Completion Date : December 2017
Estimated Study Completion Date : December 2017

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Combined pulmonary fibrosis and emphysema syndrome
Genetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome.
Genetic: Genetic analysis

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.


Pulmonary fibrosis
Genetic analysis on patients with pulmonary fibrosis.
Genetic: Genetic analysis

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.


Emphysema
Genetic analysis on patients with emphysema.
Genetic: Genetic analysis

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.


Healthy subject
Genetic analysis on healthy subject.
Genetic: Genetic analysis

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.





Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. Mutation of the telomerase complex genes evaluated by gene sequencing. [ Time Frame: At inclusion ]
    Frequency of the telomerase complex mutations measured by the percentage of patients having at least one mutation of the complex.

  2. Mutations in the gene encoding the SFTPC evaluated by gene sequencing [ Time Frame: At inclusion ]
    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

  3. Patients characteristics evaluated by clinical examination [ Time Frame: At inclusion ]
    Comparison of each type of patients with controls

  4. Genetic profile evaluated by gene sequencing. [ Time Frame: At inclusion ]
    Description of the mutations found, relations with the phenotype

  5. Total mortality evaluated by phone call contact [ Time Frame: 6 months ]
    6 months after inclusion, patients will be contacted to know their clinical status.



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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Other causes of interstitial lung disease or context:

    • Connective
    • Pneumonia drug
    • Pneumoconiosis
    • Sarcoidosis
    • histiocytosis, lymphangioleiomyomatosis, etc.
  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02439528


Contacts
Contact: Vincent COTTIN, PU-PH 427 857 700 ext +33 vincent.cottin@chu-lyon.fr
Contact: Nathan Mewton, PH 4 27 85 66 87 ext +33 nathan.mewton@chu-lyon.fr

Locations
France
Hospices Civils de Lyon - Hôpital louis Pradel Recruiting
Bron, France, 69500
Contact: Vincent COTTIN, PU-PH    427 857 700 ext +33    vincent.cottin@chu-lyon.fr   
Principal Investigator: Vincent COTTIN, PU-PH         
Hôpital Albert Michallon Recruiting
Grenoble, France, 38 043
Contact: Christophe Pison, PU-PH    4 76 76 58 98 ext +33    cpison@chu-grenoble.fr   
Principal Investigator: Christophe Pison, PU-PH         
Hôpital Nord Recruiting
Saint-Etienne, France, 42 055
Contact: Jean-Michel Vergnon, PU-PH    4 77 82 83 14 ext +33    jean.michel.vergnon@univ-st-etienne.fr   
Principal Investigator: Jean-Michel Vergnon, PU-PH         
Sponsors and Collaborators
Hospices Civils de Lyon
Investigators
Principal Investigator: Vincent Cottin, PU-PH Hospices Civils de Lyon

Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT02439528     History of Changes
Other Study ID Numbers: 2013.819
First Posted: May 8, 2015    Key Record Dates
Last Update Posted: August 22, 2017
Last Verified: August 2017

Keywords provided by Hospices Civils de Lyon:
pulmonary fibrosis
syndrome
genetic
emphysema

Additional relevant MeSH terms:
Emphysema
Pulmonary Emphysema
Syndrome
Fibrosis
Pulmonary Fibrosis
Disease
Pathologic Processes
Lung Diseases
Respiratory Tract Diseases
Pulmonary Disease, Chronic Obstructive
Lung Diseases, Obstructive