- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02439528
Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome (GENES-SEF)
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Vincent COTTIN, PU-PH
- Phone Number: +33 427 857 700
- Email: vincent.cottin@chu-lyon.fr
Study Contact Backup
- Name: Nathan Mewton, PH
- Phone Number: +33 4 27 85 66 87
- Email: nathan.mewton@chu-lyon.fr
Study Locations
-
-
-
Bron, France, 69500
- Recruiting
- Hospices Civils de Lyon - Hopital Louis Pradel
-
Contact:
- Vincent COTTIN, PU-PH
- Phone Number: +33 427 857 700
- Email: vincent.cottin@chu-lyon.fr
-
Principal Investigator:
- Vincent COTTIN, PU-PH
-
Grenoble, France, 38 043
- Recruiting
- Hôpital Albert Michallon
-
Contact:
- Christophe Pison, PU-PH
- Phone Number: +33 4 76 76 58 98
- Email: cpison@chu-grenoble.fr
-
Principal Investigator:
- Christophe Pison, PU-PH
-
Saint-Etienne, France, 42 055
- Recruiting
- Hopital Nord
-
Contact:
- Jean-Michel Vergnon, PU-PH
- Phone Number: +33 4 77 82 83 14
- Email: jean.michel.vergnon@univ-st-etienne.fr
-
Principal Investigator:
- Jean-Michel Vergnon, PU-PH
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: OTHER
- Allocation: NON_RANDOMIZED
- Interventional Model: PARALLEL
- Masking: NONE
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
OTHER: Combined pulmonary fibrosis and emphysema syndrome
Genetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome.
|
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. |
OTHER: Pulmonary fibrosis
Genetic analysis on patients with pulmonary fibrosis.
|
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. |
OTHER: Emphysema
Genetic analysis on patients with emphysema.
|
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. |
OTHER: Healthy subject
Genetic analysis on healthy subject.
|
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. |
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
|
At inclusion
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
At inclusion
|
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
|
At inclusion
|
Patients characteristics evaluated by clinical examination
Time Frame: At inclusion
|
Comparison of each type of patients with controls
|
At inclusion
|
Genetic profile evaluated by gene sequencing.
Time Frame: At inclusion
|
Description of the mutations found, relations with the phenotype
|
At inclusion
|
Total mortality evaluated by phone call contact
Time Frame: 6 months
|
6 months after inclusion, patients will be contacted to know their clinical status.
|
6 months
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Vincent Cottin, PU-PH, Hospices Civils de Lyon
Study record dates
Study Major Dates
Study Start
Primary Completion (ANTICIPATED)
Study Completion (ANTICIPATED)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2013.819
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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