Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives (RaDiCo-ILD 2)

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 Overview

• Status: Recruiting
• Conditions: Interstitial Lung Diseases

• Study Type: Observational
• Enrollment (Estimated): 3000

Contacts and Locations

• Study Contact: Name: Annick Clement, Pr; Email: annick.clement@aphp.fr
• Study Contact Backup: Name: Vincent Cottin, Pr; Phone Number: (33) 4 27 85 77 00; Email: vincent.cottin@chu-lyon.fr

Study Locations

• France
  • Île-de-France Region
    • Paris, Île-de-France Region, France, 75012
      • Recruiting
      • RaDiCo-ILD2
      • Principal Investigator: Vincent Cottin, Pr
      • Contact: Sonia Gueguen, PHD; Phone Number: 0033 6 88 34 54 08; Email: sonia.gueguen@radico.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic assessment	Identification of gene factors involved in disease initiation and 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
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	Presence of macrocytosis, thrombocytopenia, anaemia, dysmyelopoiesis, myelodysplasia, aplasia, or acute leukaemia	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	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)		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

Collaborators and Investigators

• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Investigators: Principal Investigator: Vincent Cottin, Pr, Centre National de Référence des maladies pulmonaires rares

Study record dates

Study Major Dates

• Study Start (Actual): January 19, 2022
• Primary Completion (Estimated): March 19, 2031
• Study Completion (Estimated): March 19, 2031

Study Registration Dates

• First Submitted: August 3, 2023
• First Submitted That Met QC Criteria: September 12, 2023
• First Posted (Actual): September 14, 2023

Study Record Updates

• Last Update Posted (Actual): February 12, 2026
• Last Update Submitted That Met QC Criteria: February 10, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Idiopathic Pulmonary Fibrosis; Idiopathic Interstitial Pneumonia; Pediatric Interstitial Lung Diseases; Pediatrics / adult
• Additional Relevant MeSH Terms: Respiratory Tract Diseases; Lung Diseases; Pulmonary Fibrosis; Idiopathic Pulmonary Fibrosis; Lung Diseases, Interstitial; Idiopathic Interstitial Pneumonias
• Other Study ID Numbers: C20-58; 2021-A00094-37 (Registry Identifier: IDRCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No