Clinical trial NCT06036719: Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives
Official title: Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Interstitial Lung Diseases
Keywords: Pediatric Interstitial Lung Diseases
Idiopathic Pulmonary Fibrosis
Pediatrics / adult
Idiopathic Interstitial Pneumonia
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-09-14
Enrollment: 3000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study cohort will include:

* Prevalent and incident cases of symptomatic adult and paediatric patients with a diagnosed IIP, other chronic fibrosing ILDs with progressive phenotype, SSc-associated ILDs. In total, 2850 patients are expected. 1600 patients are already included via the initial protocol RaDiCo-PID.
* Cases corresponding to patients included as 1st degree relatives of a symptomatic diagnosed FPF patient carrying a specific mutation. About 150 relatives are expected in this protocol. No inclusion in initial protocol because it is a new population.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Family history
timeFrame: At inclusion visit
measure: Clinical parameters : respiratory examination
timeFrame: 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
measure: Collection of biological parameters
timeFrame: 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
measure: Chest scan
timeFrame: 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
measure: Chest radiographs
timeFrame: 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
measure: Pulmonary scintigraphy
timeFrame: 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
measure: Chest RMI
timeFrame: 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
measure: Echocardiography
timeFrame: 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
measure: Search for infectious agents
timeFrame: 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
measure: Bronchoscopy
timeFrame: 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
measure: Lung function tests: Arterial blood gas
timeFrame: 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
measure: Lung function tests: if available sleep gas exchange
timeFrame: 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
measure: Lung function tests: polysomnography
timeFrame: 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
measure: Lung tissue examination, if available Lung biopsy (surgical, transbronchial), Lung explant, if lung transplant
timeFrame: 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
measure: Assessment of digestive function
timeFrame: 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
measure: Assessment of cardiac function (cardiovascular ultrasound)
timeFrame: 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
measure: Assessment of cardiac function (cardiac magnetic resonance imaging)
timeFrame: 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
measure: Assessment of cardiac function ( right heart catheterization)
timeFrame: 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
measure: Dermatological evaluation
timeFrame: 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
measure: Fertility evaluation
timeFrame: 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
measure: Bone densitometry
timeFrame: 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
measure: Collection of patient treatments
timeFrame: Through study completion, at 6 months, 1 year, 2 year, 3 year, 4 year, 5 year for patients
Secondary outcomes:
measure: Genetic assessment
timeFrame: 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
measure: The description of data on environmental and co-morbidity factors impacting disease severity
timeFrame: 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
measure: Validate already published biomarkers candidates for disease diagnosis
timeFrame: 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
measure: Validate already published biomarkers candidates for disease progression.
timeFrame: 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
measure: SARS-CoV2: Method of diagnosis, symptoms, medical supports, treatments
timeFrame: 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
measure: Immuno-hematological assessment
timeFrame: 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
measure: Hepatic assessment (hepatocellular carcinoma)
timeFrame: 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
measure: Hepatic assessment (Liver function tests)
timeFrame: 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
measure: Hepatic assessment (cirrhosis)
timeFrame: 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
measure: Cutaneous assessment
timeFrame: 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
measure: Pulmonary emphysema on the thoracic scanner and evaluated by double reading of the scanner
timeFrame: 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
measure: Spermogram assessment
timeFrame: 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
measure: Hormonal evaluation
timeFrame: 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
measure: Osteopenia, osteoporosis
timeFrame: 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
measure: Solid cancer including skin cancer and cervical dysplasia (current cancer and history of cancer)
timeFrame: 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
Other outcomes:
Locations:
city: Paris
country: France
facility: RaDiCo-ILD2
state: Île-de-France
Study officials:
affiliation: Centre National de Référence des maladies pulmonaires rares
name: Vincent Cottin, Pr
role: PRINCIPAL_INVESTIGATOR
References: