Genetics of the Combined Pulmonary Fibrosis and Emphysema Syndrome

NCT02439528 | Completed

• 1 other identifier: 2013.819
• Study Type: interventional
• Target: 250
• Locations: 1 country
• Sites: 3

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).

Conditions

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

Keywords

pulmonary fibrosis; syndrome; genetic; emphysema

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• 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

Study Arms (4)

Combined pulmonary fibrosis and emphysema syndrome

OTHER

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

Genetic: Genetic analysis

Pulmonary fibrosis

OTHER

Genetic analysis on patients with pulmonary fibrosis.

Genetic: Genetic analysis

Emphysema

OTHER

Genetic analysis on patients with emphysema.

Genetic: Genetic analysis

Healthy subject

OTHER

Genetic analysis on healthy subject.

Genetic: Genetic analysis

Interventions

Genetic analysis GENETIC

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.

Combined pulmonary fibrosis and emphysema syndrome; Emphysema; Healthy subject; Pulmonary fibrosis

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (3)

Hôpital pneumologique et cardiovasculaire Louis Pradel, HCL

Bron, 69677, France

Location

Hôpital Albert Michallon, CHU de Grenoble

Grenoble, 38 043, France

Location

Hôpital Nord, CHU de Saint-Etienne

Saint-Etienne, 42055, France

Location

MeSH Terms

Conditions

Pulmonary Fibrosis; Emphysema; Syndrome

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Disease

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Vincent COTTIN, MD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 29, 2014
• First Posted: May 8, 2015
• Study Start: March 25, 2015
• Primary Completion: December 6, 2018
• Study Completion: December 6, 2018
• Last Updated: December 19, 2025

Record last verified: 2025-12

Locations

FR (3)