Pulmonary Fibrosis
Conditions
Keywords
Pulmonary fibrosis, Telomerase mutation
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.
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.
Interventions
None listed
Sponsors
Bichat Hospital
Groupe d'Etudes et de Recherche sur les Maladies Orphelines Pulmonaires
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Description of imaging pattern | at baseline only | Description of imaging pattern on representative CT scan at diagnosis. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Pathology of the lung | at baseline only | description of pathological pattern |
| Pulmonary function tests | from diagnosis to last follow-up, for an average of one year | analyze the respiratory function |
Countries
France
Outcome results
None listed