Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome

Healthy Subjects Clinical Trial

— GENES-SEF  

Official title:

Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02439528
• Other study ID #: 2013.819
• Status: Recruiting
• Phase: N/A
• First received: August 29, 2014
• Last updated: August 21, 2017
• Start date: March 2015
• Est. completion date: December 2017

Study information

• Verified date: August 2017
• Source: Hospices Civils de Lyon
• Contact: Vincent COTTIN, PU-PH
• Phone: 427 857 700
• Email: vincent.cottin[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical 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 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 2017
• Est. primary completion date: December 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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

Related Conditions & MeSH terms

• Combined Pulmonary Fibrosis and Emphysema Syndrome
• Emphysema
• Fibrosis
• Healthy Subjects
• Pulmonary Emphysema
• Pulmonary Fibrosis
• Syndrome

Intervention

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.

Locations

Country	Name	City	State
France	Hospices Civils de Lyon - Hôpital louis Pradel	Bron
France	Hôpital Albert Michallon	Grenoble
France	Hôpital Nord	Saint-Etienne

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	At inclusion
Secondary	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.	At inclusion
Secondary	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	At inclusion
Secondary	Patients characteristics evaluated by clinical examination	Comparison of each type of patients with controls	At inclusion
Secondary	Genetic profile evaluated by gene sequencing.	Description of the mutations found, relations with the phenotype	At inclusion
Secondary	Total mortality evaluated by phone call contact	6 months after inclusion, patients will be contacted to know their clinical status.	6 months