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Pulmonary Fibrosis and Telomerase Mutation Study

This study has been completed.
Bichat Hospital
Information provided by (Responsible Party):
Vincent COTTIN, Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires Identifier:
First received: December 13, 2011
Last updated: June 6, 2016
Last verified: June 2016

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.

Pulmonary Fibrosis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Phenotype of Pulmonary Fibrosis Associated With a Mutation of Telomerase

Resource links provided by NLM:

Further study details as provided by Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires:

Primary Outcome Measures:
  • Description of imaging pattern [ Time Frame: at baseline only ]
    Description of imaging pattern on representative CT scan at diagnosis.

Secondary Outcome 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

Biospecimen Retention:   Samples With DNA
one blood sample is collected for genetic analysis of telomerase mutation

Enrollment: 81
Study Start Date: December 2011
Study Completion Date: December 2015
Primary Completion Date: June 2012 (Final data collection date for primary outcome measure)
telomerase mutation
Patients with interstitial lung disease and telomerase mutation
Patients with idiopathic pulmonary fibrosis and without telomerase mutation

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
patients with pulmonary fibrosis with and without telomerase mutation

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01501578

Louis Pradel Hospital (Bâtiment A4)
Lyon (Bron), France, 69677
Sponsors and Collaborators
Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires
Bichat Hospital
Principal Investigator: vincent Cottin, MD Hospices civils de Lyon / University Lyon I
  More Information

Additional Information:
Responsible Party: Vincent COTTIN, Principal Investigator, Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires Identifier: NCT01501578     History of Changes
Other Study ID Numbers: GERMOP-004
Study First Received: December 13, 2011
Last Updated: June 6, 2016
Individual Participant Data  
Plan to Share IPD: Yes
Plan Description: Under analysis, publication in preparation

Keywords provided by Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires:
Pulmonary fibrosis
Telomerase mutation

Additional relevant MeSH terms:
Pulmonary Fibrosis
Pathologic Processes
Lung Diseases
Respiratory Tract Diseases processed this record on April 26, 2017