Clinical trial NCT02439528: Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome
Official title: Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Combined Pulmonary Fibrosis and Emphysema Syndrome
Pulmonary Fibrosis
Emphysema
Healthy Subjects
Keywords: pulmonary fibrosis
syndrome
genetic
emphysema
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2015-05-08
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL
Primary purpose: OTHER

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).


Eligibility 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

Primary outcomes:
measure: Telomere length
timeFrame: At inclusion
Secondary outcomes:
measure: Mutation of the telomerase complex genes evaluated by gene sequencing.
timeFrame: At inclusion
measure: Mutations in the gene encoding the SFTPC evaluated by gene sequencing
timeFrame: At inclusion
measure: Patients characteristics evaluated by clinical examination
timeFrame: At inclusion
measure: Genetic profile evaluated by gene sequencing.
timeFrame: At inclusion
measure: Total mortality evaluated by phone call contact
timeFrame: 6 months
Other outcomes:
Locations:
city: Bron
country: France
facility: Hospices Civils de Lyon - Hôpital louis Pradel
city: Grenoble
country: France
facility: Hôpital Albert Michallon
city: Saint-Etienne
country: France
facility: Hôpital Nord
Study officials:
affiliation: Hospices Civils de Lyon
name: Vincent Cottin, PU-PH
role: PRINCIPAL_INVESTIGATOR
References: