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

• ClinicalTrials.gov Identifier: NCT06036719
• Recruitment Status: Recruiting
• First Posted: September 14, 2023
• Last Update Posted: September 14, 2023
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Information provided by (Responsible Party): Institut National de la Santé Et de la Recherche Médicale, France

Study Description

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.

Condition or disease
Interstitial Lung Diseases

Study Design

• Study Type: Observational
• Estimated Enrollment: 3000 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives
• Actual Study Start Date: January 19, 2022
• Estimated Primary Completion Date: March 19, 2031
• Estimated Study Completion Date: March 19, 2031

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

1. Family history [ Time Frame: At inclusion visit ]
2. 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 ]
3. 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 ]
4. 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 ]
5. 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 ]
6. 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 ]
7. 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 ]
8. 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 ]
9. 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 ]
10. 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 ]
11. 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 ]
12. 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 ]
13. 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 ]
14. 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 ]
15. 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 ]
16. 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 ]
17. 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 ]
18. 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 ]
19. 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 ]
20. 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 ]
21. 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 ]
22. Collection of patient treatments [ Time Frame: 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 Outcome Measures :

1. Genetic assessment [ 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 ]
   Identification of gene factors involved in disease initiation and progression
2. 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 ]
3. 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 ]
4. 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 ]
5. 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 ]
6. Immuno-hematological assessment [ 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 ]
   Presence of macrocytosis, thrombocytopenia, anaemia, dysmyelopoiesis, myelodysplasia, aplasia, or acute leukaemia
7. Hepatic assessment (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 ]
   Liver function tests, cirrhosis, hepatocellular carcinoma
8. Hepatic assessment (Liver function tests) [ 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 ]
9. Hepatic assessment (cirrhosis) [ 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 ]
10. Cutaneous assessment [ 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 ]
11. Pulmonary emphysema on the thoracic scanner and evaluated by double reading of the scanner [ 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 ]
12. Spermogram assessment [ 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 ]
13. Hormonal 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 ]
14. Osteopenia, osteoporosis [ 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 ]
15. Solid cancer including skin cancer and cervical dysplasia (current cancer and history of cancer) [ 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 ]

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• 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.

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.

Contacts and Locations

Contacts

Contact: Vincent Cottin, Pr; (33) 4 27 85 77 00; vincent.cottin@chu-lyon.fr

Contact: Annick Clement, Pr; annick.clement@aphp.fr

Locations

France

RaDiCo-ILD2; Recruiting

Paris, Île-de-France, France, 75012

Contact: Sonia Gueguen, PHD 0033 6 88 34 54 08 sonia.gueguen@radico.fr

Principal Investigator: Vincent Cottin, Pr

Sponsors and Collaborators

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

More Information

• Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
• ClinicalTrials.gov Identifier: NCT06036719
• Other Study ID Numbers: C20-58; 2021-A00094-37 ( Registry Identifier: IDRCB )
• First Posted: September 14, 2023
• Last Update Posted: September 14, 2023
• Last Verified: July 2023

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Undecided

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:

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

Additional relevant MeSH terms:

Lung Diseases; Lung Diseases, Interstitial; Respiratory Tract Diseases