NCT04902807 Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
| NCT ID | NCT04902807 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France |
| Condition | Autoimmune Lymphoproliferative Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 500 participants |
| Start Date | 2021-09-07 |
| Primary Completion | 2025-05-14 |
Trial Parameters
Eligibility Fast-Check
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Brief Summary
The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics, epigenomics, proteomics, metagenomics, metabolomics and lipidomics).
Eligibility 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 o