Actively Recruiting
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2025-09-08
500
Participants Needed
1
Research Sites
54 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to develop diagnostic and therapeutic decision-making tools for patients with primary immune deficiencies (PIDs) that involve autoimmunity and inflammation. These conditions are rare genetic diseases affecting immune cells and can lead to severe infections, cancer, and autoimmune diseases. The study focuses on understanding the molecular causes and variability in disease outcomes by analyzing multiple biological signatures such as transcriptomics, epigenomics, proteomics, metagenomics, metabolomics, and lipidomics. Participants include patients with PIDs and related autoimmune or inflammatory conditions, their siblings, and individuals with other diseases unrelated to immune dysfunction. Samples of blood, urine, and stool will be collected at the start and during follow-up visits, particularly at 12 months for patients. The study gathers comprehensive biological data to build an atlas of molecular interactions and develop an artificial intelligence tool to assist diagnosis and treatment decisions. During the study, participants will provide biological samples and undergo clinical assessments. Researchers will analyze these samples to identify biomarkers and molecular patterns that explain the varying disease courses. The main outcome is the creation of tools to improve diagnosis and therapy decisions over five years. The study includes continuous monitoring and follow-up, with data collected from patients, their relatives, and controls to support findings.
CONDITIONS
Brief Title
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Individuals under 18 years of age
- Individuals weighing more than 6 kg (controls) or more than 9 kg (patients)
- Patients treated at Necker Hospital with primary immune deficiencies and autoimmunity/inflammation related to known genetic defects
- Individuals not affected by immune-related diseases or cancer (controls)
- Individuals with health insurance (patients)
- Parents have provided informed consent for participants
You will not qualify if you...
- Use of antibiotics within 2 weeks before inclusion
- Lack of parental or child consent
- Receiving cytotoxic cancer treatments
- Receiving antiviral treatments (e.g., for HIV, hepatitis)
- Presence of short-term life-threatening conditions
- Individuals under judicial protection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants provide blood, urine, and stool samples which will be used to develop diagnosis and therapeutic decision tools.
Samples collected at inclusion and blood samples collected at 12-month follow-up for some participants
Duration - Up to 5 years
Participants are observed over time to develop molecular interaction atlases and artificial intelligence applications related to autoimmunity and inflammation.
Follow-up assessments at 12 months and possibly longer
Trial Site Locations
Total: 1 location
1
hôpital Necker Enfants Malades
Paris, France
Actively Recruiting
Research Team
F
Frédéric Rieux-Laucat
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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