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

Tracking Information

• First Submitted Date: August 3, 2023
• First Posted Date: September 14, 2023
• Last Update Posted Date: September 14, 2023
• Actual Study Start Date: January 19, 2022
• Estimated Primary Completion Date: March 19, 2031 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: September 12, 2023)

• Family history [ Time Frame: At inclusion visit ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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..

• Original Primary Outcome Measures: Same as current
• Change History: No Changes Posted

Current Secondary Outcome Measures (submitted: September 12, 2023)

• 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
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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
• 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
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]
• 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 ]

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives
• Official Title: Interstitial Lung Disease: A Study From Infancy to Elderly Including Relatives

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.

• Detailed Description: Not Provided
• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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.

• Condition: Interstitial Lung Diseases
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: September 12, 2023): 3000
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: March 19, 2031
• Estimated Primary Completion Date: March 19, 2031 (Final data collection date for primary outcome measure)

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.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: Not Provided

Contacts

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

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

• Listed Location Countries: France

Administrative Information

• NCT Number: NCT06036719
• Other Study ID Numbers: C20-58; 2021-A00094-37 ( Registry Identifier: IDRCB )
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

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

IPD Sharing Statement

• Plan to Share IPD: Undecided

• Current Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
• Original Responsible Party: Same as current
• Current Study Sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Principal Investigator: Vincent Cottin, Pr; Centre National de Référence des maladies pulmonaires rares

• PRS Account: Institut National de la Santé Et de la Recherche Médicale, France
• Verification Date: July 2023