Overview
The concerned patients are children and adults suffering from idiopathic interstitial pneumonias, other chronic fibrosing interstitial pneumonias with a progressive phenotype, and interstitial pneumonia associated with Scleroderma and related cases of patients carrying a mutation on one of the telomere-associated genes.
This is a national, observational, longitudinal, multicenter study that will be conducted retrospectively and prospectively. It aims to collect consistent and comparable clinical data for patients and their relatives, whether they carry a mutation or not, affected by diffuse idiopathic interstitial pneumopathy.
The expected duration of the study, including data analysis, is approximately 10 years (5 years for participant enrollment and 5 years of follow-up, in addition to the steps for data management and statistical analyses).
Each participating center will inform every participant by providing an information sheet, and their written consent will be obtained before including them in the study and commencing data collection.
Prospective medical data will be collected at 6 months to 1 year after enrollment and then at least once per year for patients up to 5 years and 5 years for their relatives.
Participants will complete a self-questionnaire during their regular follow-up consultations or by accessing a secure interface.
Eligibility
Inclusion Criteria:
Confirmed diagnosis of IIP established based on clinical, radiological, or functional
criteria.
Confirmed diagnosis of non-IPF progressive fibrotic interstitial lung disease (PF-ILD) with
fibrosis ≥ 10% on CT scan, disease worsening not related to pulmonary embolism,
decompensated heart failure, or lower respiratory tract infection, and disease progression
despite "appropriate management" evaluated over a period of up to 24 months:
- A relative decline in Forced Vital Capacity (FVC) of at least 10% from predicted
value, with or without clinical deterioration, or
- A combination of at least 2 of the following criteria: a relative decline in FVC
between 5% and 10% from predicted value, worsening respiratory symptoms, increased
extent of pulmonary fibrosis on thoracic CT scan.
Confirmed diagnosis of Systemic Sclerosis-associated Interstitial Lung Disease (SSc-ILD)
(American College of Rheumatology criteria), with a total score ≥ 9 and disease extent
involving ≥ 10% of the lungs (defined by reticular abnormalities, honeycombing, and
ground-glass opacities) on high-resolution CT (HRCT) scan.
For relatives: First degree relatives of patients carrying a mutation in TERT, TERC, RTEL1,
TINF2, DKC1, PARN genes, and other telomere related genes that may be described in the
future and included.