Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives

Institut National de la Santé Et de la Recherche Médicale, France3,000 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

3,000

Conditions

Interstitial Lung Diseases

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Family history

Time frame: At inclusion visit

Clinical parameters : respiratory examination

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Collection of biological parameters

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Chest scan

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Chest radiographs

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Pulmonary scintigraphy

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Chest RMI

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Echocardiography

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Search for infectious agents

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Bronchoscopy

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Lung function tests: Arterial blood gas

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Lung function tests: if available sleep gas exchange

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Lung function tests: polysomnography

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Lung tissue examination, if available Lung biopsy (surgical, transbronchial), Lung explant, if lung transplant

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Assessment of digestive function

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Assessment of cardiac function (cardiovascular ultrasound)

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Assessment of cardiac function (cardiac magnetic resonance imaging)

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Assessment of cardiac function ( right heart catheterization)

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Dermatological evaluation

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Fertility evaluation

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Bone densitometry

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Collection of patient treatments

treatment name, dosage, start and end dates..

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients

Secondary Outcomes

Genetic assessment

Identification of gene factors involved in disease initiation and progression

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

The description of data on environmental and co-morbidity factors impacting disease severity

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Validate already published biomarkers candidates for disease diagnosis

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Validate already published biomarkers candidates for disease progression.

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

SARS-CoV2: Method of diagnosis, symptoms, medical supports, treatments

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Immuno-hematological assessment

Presence of macrocytosis, thrombocytopenia, anaemia, dysmyelopoiesis, myelodysplasia, aplasia, or acute leukaemia

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Hepatic assessment (hepatocellular carcinoma)

Liver function tests, cirrhosis, hepatocellular carcinoma

Time frame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients, and at inclusion and 5 years for relatives

Hepatic assessment (Liver function tests)

Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts