Interstitial Lung Diseases
Conditions
Keywords
Pediatric Interstitial Lung Diseases, Idiopathic Pulmonary Fibrosis, Pediatrics / adult, Idiopathic Interstitial Pneumonia
Brief summary
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.
Interventions
None listed
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Lung function tests: polysomnography | 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 | — |
| Family history | At inclusion visit | — |
| Clinical parameters : respiratory examination | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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 | 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) | 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) | 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) | 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 | 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 | 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 | 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 | Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients | treatment name, dosage, start and end dates.. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genetic assessment | 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 | Identification of gene factors involved in disease initiation and progression |
| The description of data on environmental and co-morbidity factors impacting disease severity | 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 | 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. | 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 | 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 | 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 | Presence of macrocytosis, thrombocytopenia, anaemia, dysmyelopoiesis, myelodysplasia, aplasia, or acute leukaemia |
| Hepatic assessment (hepatocellular carcinoma) | 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 | Liver function tests, cirrhosis, hepatocellular carcinoma |
| Hepatic assessment (Liver function tests) | 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 (cirrhosis) | 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 | — |
| Cutaneous assessment | 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 emphysema on the thoracic scanner and evaluated by double reading of the scanner | 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 | — |
| Spermogram assessment | 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 | — |
| Hormonal evaluation | 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 | — |
| Osteopenia, osteoporosis | 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 | — |
| Solid cancer including skin cancer and cervical dysplasia (current cancer and history of cancer) | 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 | — |
Countries
France
Contacts
CONTACTVincent Cottin, Pr
CONTACTAnnick Clement, Pr
PRINCIPAL_INVESTIGATORVincent Cottin, Pr
Centre National de Référence des maladies pulmonaires rares
Outcome results
None listed