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

NCT04902807 | Recruiting

• 1 other identifier: C20-59
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

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).

Conditions

Autoimmune Lymphoproliferative Syndrome; Autoimmune Cytopenia; Autoimmune Diseases; Autoimmune Anemia; Autoimmune Thrombocytopenia; Autoimmune Hepatitis; Autoimmune Diabetes; Autoimmune Rheumatologic Disease; Systemic Lupus Erythematosus; Juvenile Idiopathic Arthritis; Hemophagocytic Lymphohistiocytoses; EBV Lymphoproliferation; RAS-Associated Autoimmune Leucoproliferative Disease; Primary Immunodeficiency; APECED; IPEX; BENTA; Enteropathy, Autoimmune; Combined Immunodeficiency; IBD

Outcome Measures

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).

  5 years

Secondary Outcomes (3)

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

  5 years

• 2 - To develop an artificial intelligent online application

  5 years

• 3- Ancillary study (pilot study)

  5 years

Study Arms (3)

Patients

based on the potential for inclusion of patient's cohort followed in Necker hospital with PIDs and poly-autoimmunity related to known genetic defects. Recruitments will be made at Pediatric Rheumatology Immuno Hematology department, and paediatric Gastroenterology department (n=250). Collection of blood, urine and stools at inclusion and blood at 12 months consultation/ follow-up.

Biological: Collection of samples

Patients' relatives (control)

Brothers or sisters of the patients (n=125). Collection of blood, urine and stools at inclusion.

Biological: Collection of samples

Patients with unrelated diseases (control)

Recruitments will be made at the Paediatric Gastroenterology Department, in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery at Necker's Hospital. Participants will be included if not diagnosed PIDs and poly-autoimmunity (n=125). Collection of blood, urine and stools.

Biological: Collection of samples

Interventions

Collection of samples BIOLOGICAL

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

Patients; Patients with unrelated diseases (control); Patients' relatives (control)

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study 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.

You may qualify if:

• 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.
• Individuals with health insurance.
• Individuals aged\<18 y/o.
• Individuals \> 9 kg
• Patients whose parents have signed an enlightened consent.

You may not qualify if:

• 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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

hôpital Necker Enfants Malades

Paris, France

RECRUITING

Related Links

• Website of the research study

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood, Urine and Stools

MeSH Terms

Conditions

Autoimmune Lymphoproliferative Syndrome; Autoimmune Diseases; Purpura, Thrombocytopenic, Idiopathic; Hepatitis, Autoimmune; Diabetes Mellitus, Type 1; Lupus Erythematosus, Systemic; Arthritis, Juvenile; Lymphohistiocytosis, Hemophagocytic; Primary Immunodeficiency Diseases; Polyendocrinopathies, Autoimmune; Autoimmune enteropathy

Condition Hierarchy (Ancestors)

Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Immunoproliferative Disorders; Purpura, Thrombocytopenic; Purpura; Blood Coagulation Disorders; Hematologic Diseases; Thrombotic Microangiopathies; Thrombocytopenia; Blood Platelet Disorders; Cytopenia; Hemorrhagic Disorders; Hemorrhage; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Skin Manifestations; Signs and Symptoms; Hepatitis, Chronic; Hepatitis; Liver Diseases; Digestive System Diseases; Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Immunologic Deficiency Syndromes

Study Officials

• Frédéric Rieux-Laucat

  Institut Imagine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Frédéric Rieux-Laucat

CONTACT

+33142754200; frederic.rieux-laucat@inserm.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 21, 2021
• First Posted: May 26, 2021
• Study Start: September 7, 2021
• Primary Completion: May 14, 2025
• Study Completion (Estimated): June 1, 2026
• Last Updated: September 8, 2025

Record last verified: 2025-09

Locations

FR (1)