Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome

Not Applicable

• Conditions: Combined Pulmonary Fibrosis and Emphysema Syndrome; Pulmonary Fibrosis; Emphysema; Healthy Subjects
• Interventions: Genetic: Genetic analysis

• Registration Number: NCT02439528
• Lead Sponsor: 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).

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2014-08-29
• Study Start: 2015-03
• Study First Submitted QC: 2015-05-07
• Study First Posted: 2015-05-08
• Status Verified: 2017-08
• Last Update Submitted: 2017-08-21
• Last Update Posted: 2017-08-22
• Primary Completion: 2017-12
• Study Completion: 2017-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 500

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

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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

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Pulmonary fibrosis	Genetic analysis	Genetic analysis on patients with pulmonary fibrosis.
Combined pulmonary fibrosis and emphysema syndrome	Genetic analysis	Genetic analysis on patients with combined pulmonary fibrosis and emphysema syndrome.
Emphysema	Genetic analysis	Genetic analysis on patients with emphysema.
Healthy subject	Genetic analysis	Genetic analysis on healthy subject.

Primary Outcome Measures

Name	Time	Method
Telomere length	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

Name	Time	Method
Mutations in the gene encoding the SFTPC evaluated by gene sequencing	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
Mutation of the telomerase complex genes evaluated by gene sequencing.	At inclusion	Frequency of the telomerase complex mutations measured by the percentage of patients having at least one mutation of the complex.
Patients characteristics evaluated by clinical examination	At inclusion	Comparison of each type of patients with controls
Genetic profile evaluated by gene sequencing.	At inclusion	Description of the mutations found, relations with the phenotype
Total mortality evaluated by phone call contact	6 months	6 months after inclusion, patients will be contacted to know their clinical status.

Trial Locations

Locations (3)

Hospices Civils de Lyon - Hôpital louis Pradel; 🇫🇷 Bron, France

Hôpital Nord; 🇫🇷 Saint-Etienne, France

Hôpital Albert Michallon; 🇫🇷 Grenoble, France