Pulmonary Fibrosis and Telomerase Mutation Study
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.
|Study Design:||Observational Model: Case Control
Time Perspective: Retrospective
|Official Title:||Phenotype of Pulmonary Fibrosis Associated With a Mutation of Telomerase|
- Description of imaging pattern [ Time Frame: at baseline only ] [ Designated as safety issue: No ]Description of imaging pattern on representative CT scan at diagnosis.
- Pathology of the lung [ Time Frame: at baseline only ] [ Designated as safety issue: No ]description of pathological pattern
- Pulmonary function tests [ Time Frame: from diagnosis to last follow-up, for an average of one year ] [ Designated as safety issue: No ]analyze the respiratory function
Biospecimen Retention: Samples With DNA
one blood sample is collected for genetic analysis of telomerase mutation
|Study Start Date:||December 2011|
|Estimated Study Completion Date:||December 2012|
|Estimated Primary Completion Date:||June 2012 (Final data collection date for primary outcome measure)|
Patients with interstitial lung disease and telomerase mutation
Patients with idiopathic pulmonary fibrosis and without telomerase mutation
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.
|Contact: Vincent Cottin, MDemail@example.com|
|Contact: Raphaële Guelminger, CRAfirstname.lastname@example.org|
|Louis Pradel Hospital||Recruiting|
|Lyon (Bron), France, 69677|
|Contact: Vincent Cottin, MD 33-4-72-35-70-72 email@example.com|
|Contact: Raphaële Guelminger, CRA 33-4-72-35-70-74 firstname.lastname@example.org|
|Principal Investigator: Vincent Cottin, MD|
|Principal Investigator:||vincent Cottin, MD||Hospices civils de Lyon / University Lyon I|