Pulmonary Fibrosis and Telomerase Mutation Study

NCT01501578 | Completed

• 1 other identifier: GERMOP-004
• Study Type: observational
• Target: 81
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Pulmonary Fibrosis

Keywords

Pulmonary fibrosis; Telomerase mutation

Outcome Measures

Primary Outcomes (1)

• Description of imaging pattern

  Description of imaging pattern on representative CT scan at diagnosis.

  at baseline only

Secondary Outcomes (2)

• Pathology of the lung

  at baseline only

• Pulmonary function tests

  from diagnosis to last follow-up, for an average of one year

Study Arms (2)

telomerase mutation

Patients with interstitial lung disease and telomerase mutation

control

Patients with idiopathic pulmonary fibrosis and without telomerase mutation

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with pulmonary fibrosis with and without telomerase mutation

You may qualify if:

• Diffuse interstitial lung disease on CT scan
• Telomerase mutation analysis

You may not qualify if:

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

Sponsors & Collaborators

• Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires: lead
• Bichat Hospital: collaborator

Study Sites (1)

Louis Pradel Hospital (Bâtiment A4)

Lyon, 69677, France

Location

Related Links

• website National French Reference Center for rare lung diseases

Biospecimen

Retention: SAMPLES WITH DNA

one blood sample is collected for genetic analysis of telomerase mutation

MeSH Terms

Conditions

Pulmonary Fibrosis

Condition Hierarchy (Ancestors)

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

Study Officials

• vincent Cottin, MD

  Hospices civils de Lyon / University Lyon I

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: December 13, 2011
• First Posted: December 29, 2011
• Study Start: December 1, 2011
• Primary Completion: June 1, 2012
• Study Completion: December 1, 2015
• Last Updated: February 20, 2018

Record last verified: 2018-02

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)