Pulmonary Fibrosis and Telomerase Mutation Study

Overview

This study is an observational and retrospective study of patients with pulmonary fibrosis associated or not with telomerase mutation. The purpose of this study is to describe in detail the cases with telomerase mutation in terms of features on CT scan, respiratory function and evolution, in comparison to control subjects with idiopathic pulmonary fibrosis and no telomerase mutation identified or family history.

Full Title of Study: “Phenotype of Pulmonary Fibrosis Associated With a Mutation of Telomerase”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Retrospective
  • Study Primary Completion Date: June 2012

Detailed Description

Two "control" subjects will be enrolled for one subject with telomerase mutation. The data are all the results of investigations conducted for the diagnosis of idiopathic pulmonary fibrosis and during routine follow up of patients. The CT scans will reviewed centrally to homogenize the description.

Arms, Groups and Cohorts

  • telomerase mutation
    • Patients with interstitial lung disease and telomerase mutation
  • control
    • Patients with idiopathic pulmonary fibrosis and without telomerase mutation

Clinical Trial Outcome Measures

Primary Measures

  • Description of imaging pattern
    • Time Frame: at baseline only
    • Description of imaging pattern on representative CT scan at diagnosis.

Secondary Measures

  • Pathology of the lung
    • Time Frame: at baseline only
    • description of pathological pattern
  • Pulmonary function tests
    • Time Frame: from diagnosis to last follow-up, for an average of one year
    • analyze the respiratory function

Participating in This Clinical Trial

Inclusion Criteria

  • Diffuse interstitial lung disease on CT scan – Telomerase mutation analysis Exclusion Criteria:

  • Presence of connective tissue disease, or pneumoconiosis or drug induced lung disease

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Groupe d’Etudes et de Recherche sur les Maladies Orphelines Pulmonaires
  • Collaborator
    • Bichat Hospital
  • Provider of Information About this Clinical Study
    • Principal Investigator: Vincent COTTIN, Principal Investigator – Groupe d’Etudes et de Recherche sur les Maladies Orphelines Pulmonaires
  • Overall Official(s)
    • vincent Cottin, MD, Principal Investigator, Hospices civils de Lyon / University Lyon I

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