Status:
RECRUITING
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
Lead Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Conditions:
Autoimmune Lymphoproliferative Syndrome
Autoimmune Cytopenia
Eligibility:
All Genders
1-18 years
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 di...
Detailed Description
Primary Immune deficiencies (PIDs) are a group of monogenic diseases related to developmental or functional dysfunction of one or several immune cell types. Individually there are rare entities, but c...
Eligibility Criteria
Inclusion
- 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
Exclusion
Key Trial Info
Start Date :
September 7 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 1 2026
Estimated Enrollment :
500 Patients enrolled
Trial Details
Trial ID
NCT04902807
Start Date
September 7 2021
End Date
June 1 2026
Last Update
September 8 2025
Active Locations (1)
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1
hôpital Necker Enfants Malades
Paris, France