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

NCT06036719 | Recruiting

• 2 other identifiers: C20-582021-A00094-37
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Interstitial Lung Diseases

Keywords

Pediatric Interstitial Lung Diseases; Idiopathic Pulmonary Fibrosis; Pediatrics / adult; Idiopathic Interstitial Pneumonia

Outcome Measures

Primary Outcomes (22)

• 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 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

• 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

  treatment name, dosage, start and end dates..

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

Secondary Outcomes (15)

• 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

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

RaDiCo-ILD2

Paris, Île-de-France Region, 75012, France

RECRUITING

MeSH Terms

Conditions

Lung Diseases, Interstitial; Idiopathic Pulmonary Fibrosis; Idiopathic Interstitial Pneumonias

Condition Hierarchy (Ancestors)

Lung Diseases; Respiratory Tract Diseases; Pulmonary Fibrosis

Study Officials

• Vincent Cottin, Pr

  Centre National de Référence des maladies pulmonaires rares

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Vincent Cottin, Pr

CONTACT

(33) 4 27 85 77 00; vincent.cottin@chu-lyon.fr

Annick Clement, Pr

CONTACT

annick.clement@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 3, 2023
• First Posted: September 14, 2023
• Study Start: January 19, 2022
• Primary Completion (Estimated): March 19, 2031
• Study Completion (Estimated): March 19, 2031
• Last Updated: February 12, 2026

Record last verified: 2026-02

Locations

FR (1)