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Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation

ConditionsAutoimmune Lymphoproliferative SyndromeAutoimmune CytopeniaAutoimmune DiseasesAutoimmune AnemiaAutoimmune ThrombocytopeniaAutoimmune HepatitisAutoimmune DiabetesAutoimmune Rheumatologic DiseaseSystemic Lupus ErythematosusJuvenile Idiopathic ArthritisHemophagocytic LymphohistiocytosesEBV LymphoproliferationRAS-Associated Autoimmune Leucoproliferative DiseasePrimary ImmunodeficiencyAPECEDIPEXBENTAEnteropathy, AutoimmuneCombined ImmunodeficiencyIBD
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-18
SponsorInstitut National de la Santé Et de la Recherche Médicale, France

About this trial

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

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

Intake of antibiotics within 2 weeks prior inclusion

Absence of parent's or child consent form

Cytotoxic cancer treatments

antiviral treatments (HIV, hepatitis …)

Trial population

Patients with PIDs and autoimmunity/inflammation related to known and unknown genetic defects (ALPS, Cytopenia, Enteropathy-IBD, pSLE, JIA, FHL, CA-EBV, CID) and their healthy relatives (controls) will be recruited in 2 clinical services of Necker hospital: Paediatric Rhumatology Immuno Hematology department Department, and paediatric Paediatric Gastroenterology department Department. Unrelated controls will be recruited in the Paediatric Rhumatology Immuno Hematology Department, the Paediatric Gastroenterology Department,also be recruited in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery within patients hospitalised for a surgery and not affected by an immune-related disease or a cancer.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Collection of samples

    Biological/Vaccine

    Blood, Urine and Stool samples will be collected from the participants.

Treatment groups

500 Participants
are divided into 3 treatment groups
Group A: Patients1 intervention
Group B: Patients' relatives (control)1 intervention
Group C: Patients with unrelated diseases (control)1 intervention

Trial outcomes

Primary outcomes

1

Generate a diagnosis and therapeutic-decision tools

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 (transcriptomic, epigenomics, proteomic, metagenomic, metabolomics and lipidomics).

Time frame
5 years

Secondary outcomes

1

1- Development of an atlas of molecular interactions leading to autoimmunity and inflammation

Research tool integrating transcriptomic, proteomic, epigenetic, metabolomic and lipidomics data of pediatric affected patients as well as healthy pediatric individuals This atlas will be available widely to the public and private research community.

Time frame
5 years
2

2 - To develop an artificial intelligent online application

The decision support tool will be interoperable with any clinical information system and will be clinically validated.

Time frame
5 years
3

3- Ancillary study (pilot study)

i. Validation of candidate biomarkers associated to diagnosis and prognosis of Juvenile Idiopathic Arthritis patients ; ii. Definition of a specific clinical outcome and early quantification of the performance of a diagnostic decision tool based on omics signatures (proof of concept)

Time frame
5 years

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Institut National de la Santé Et de la Recherche Médicale, France

Lead sponsor

Source ClinicalTrials.gov
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