A diagnostic, prognostic, and treatment decision tool for children with autoimmune and inflammatory primary immune disorders
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
This project will try to use blood and other samples to find molecular patterns that help diagnose, predict outcomes, and guide treatment for children with primary immune deficiencies that cause autoimmunity and inflammation.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 1 Year to 18 Years |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris) |
| Trial ID | NCT04902807 on ClinicalTrials.gov |
What this trial studies
The project collects biological samples from pediatric patients with genetically defined primary immunodeficiencies (PIDs) who present with autoimmune or inflammatory complications, along with unaffected control relatives and unrelated subjects. Investigators will apply multiple omics technologies—transcriptomics, epigenomics, proteomics, metagenomics, metabolomics and lipidomics—to identify molecular signatures linked to diagnosis, prognosis and therapeutic response. These multi-omics data will be integrated to build algorithms intended to classify molecular causes, predict disease trajectories, and support therapeutic decision-making. The work is centered at Hôpital Necker-Enfants Malades and focuses on children under 18 with known genetic PID defects and autoimmune/inflammatory manifestations.
Who should consider this trial
Good fit: Children under 18 treated at Hôpital Necker-Enfants Malades with genetically confirmed PIDs and autoimmune or inflammatory manifestations who weigh more than 9 kg, have health insurance, and whose parents can provide informed consent are ideal candidates.
Not a fit: Adults, children without monogenic PIDs or without autoimmune/inflammatory symptoms, patients not treated at Necker, or those unable or unwilling to provide samples or consent are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, the tool could enable earlier and more precise diagnoses, better prediction of disease course, and more personalized treatment choices to reduce severe complications in affected children.
How similar studies have performed: Genomic and transcriptomic research has already identified many monogenic PID causes and shown variable clinical presentations, but fully integrated multi-omics diagnostic and decision-support tools are still emerging and not yet widely validated for routine care.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria for controls (patients relatives and unrelated subjects): * Individuals aged\<18 y/o. * Individuals \> 6 kg * Individuals not affected by an immune-related disease or not affected by cancer * Individuals whose parents have signed an enlightened consent. Inclusion criteria for patients * Individuals with health insurance. * Patients treated at Necker hospital with PIDs and autoimmunity/inflammation related to known genetic defects (cytopenia, Enteropathy Inflammatory bowel disease (IBD), Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis (JIA), Familial Hemophagocytic Lymphohistiocytosis (FHL), chronic EBV infection associated (Ca-EBV) with EBV-infected T and/or Natural Killer (NK) cells and with a high risk to develop macrophage activation syndrome similar to FHL. See table below for diagnosis inclusion criteria. * Individuals aged\<18 y/o. * Individuals \> 9 kg * Patients whose parents have signed an enlightened consent. Exclusion Criteria: * Intake of antibiotics within 2 weeks prior inclusion * Absence of parent's or child consent form * Cytotoxic cancer treatments * antiviral treatments (HIV, hepatitis …) * Short term life-threatening conditions * Individuals placed under judicial protection
Where this trial is running
Paris
- hôpital Necker Enfants Malades — Paris, France (Recruiting)
Study contacts
- Principal investigator: Frédéric Rieux-Laucat — Institut Imagine
- Study coordinator: Frédéric Rieux-Laucat
- Email: frederic.rieux-laucat@inserm.fr
- Phone: +33142754200
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.