Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome

Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome


Lead Sponsor: Hospices Civils de Lyon

Source 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).

Overall Status Unknown status
Start Date March 2015
Completion Date December 2017
Primary Completion Date December 2017
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Telomere length At inclusion
Secondary Outcome
Measure Time Frame
Mutation of the telomerase complex genes evaluated by gene sequencing. At inclusion
Mutations in the gene encoding the SFTPC evaluated by gene sequencing At inclusion
Patients characteristics evaluated by clinical examination At inclusion
Genetic profile evaluated by gene sequencing. At inclusion
Total mortality evaluated by phone call contact 6 months
Enrollment 500

Intervention Type: Genetic

Intervention Name: Genetic analysis

Description: 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.



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

Gender: All

Minimum Age: 18 Years

Maximum Age: 80 Years

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Vincent Cottin, PU-PH Principal Investigator Hospices Civils de Lyon
Overall Contact

Last Name: Vincent COTTIN, PU-PH

Phone: 427 857 700

Phone Ext.: +33

Email: [email protected]

Facility: Status: Contact: Investigator:
Hospices Civils de Lyon - Hôpital louis Pradel | Bron, 69500, France Recruiting Vincent COTTIN, PU-PH 427 857 700 +33 [email protected] Vincent COTTIN, PU-PH Principal Investigator
Hôpital Albert Michallon | Grenoble, 38 043, France Recruiting Christophe Pison, PU-PH 4 76 76 58 98 +33 [email protected] Christophe Pison, PU-PH Principal Investigator
Hôpital Nord | Saint-Etienne, 42 055, France Recruiting Jean-Michel Vergnon, PU-PH 4 77 82 83 14 +33 [email protected] Jean-Michel Vergnon, PU-PH Principal Investigator
Location Countries


Verification Date

August 2017

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Number Of Arms 4
Arm Group

Label: Combined pulmonary fibrosis and emphysema syndrome

Type: Other

Description: Genetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome.

Label: Pulmonary fibrosis

Type: Other

Description: Genetic analysis on patients with pulmonary fibrosis.

Label: Emphysema

Type: Other

Description: Genetic analysis on patients with emphysema.

Label: Healthy subject

Type: Other

Description: Genetic analysis on healthy subject.

Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Other

Masking: None (Open Label)