No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
1 – 18
Sex
Any
Study type
Observational
Participants needed
500 (estimated)
Sponsor
Institut National de la Santé Et de la Recherche Médicale, France · Government
Who this trial is looking for
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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).
Trial Locations
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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 pa…
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
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