Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Last updated: March 4, 2025
Sponsor: Hospices Civils de Lyon
Overall Status: Active - Recruiting

Phase

N/A

Condition

Connective Tissue Diseases

Collagen Vascular Diseases

Treatment

Blood sample for genetic analysis

Blood sample to identify relevant biomarker of the disease

Blood sample for immunological response assessments

Clinical Study ID

NCT06435468
69HCL23_1252
  • Ages > 1
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.

This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Patients

  • minor or adult patient of any age with a rare dysimmune disease characterized byautoimmunity or auto-inflammation or early lymphoproliferation, having started inchildhood (<18 years), or syndromic or familial

  • relative of a minor or adult patient with a rare dysimmune disease characterized byautoimmunity or auto-inflammation or early lymphoproliferation, having started inchildhood (<18 years of age) or syndromic or familial,

  • weight greater than 5 kg

  • Patient/parents/guardians who were informed of the study and signed the consentform.

  • patient affiliated to a social security scheme

Healthy volunteer participants

  • minor or adult participants with no age restrictions

  • weight over 5 kg

  • Subject /Parents/guardians who were informed of the study and signed a consent form.

  • Patient affiliated to a social security scheme

Exclusion

Exclusion Criteria:

Patients

  • Subjects /Parents/guardians, refusing to participate in the study

Healthy volunteer participants :

  • active infection (viral, bacterial, parasitic)

  • history of neoplasia (< 5 years) or current neoplasia

  • participants with a personal or family history of autoimmune disease

  • immunocompromised participant (immune deficiency or transplant recipient)

  • Subjects/parents/guardians refusing to participate in the study

  • Adults under legal protection (guardianship, curatorship)

Study Design

Total Participants: 400
Treatment Group(s): 3
Primary Treatment: Blood sample for genetic analysis
Phase:
Study Start date:
February 26, 2025
Estimated Completion Date:
July 27, 2035

Study Description

A disease is said to be "rare" when it affects one person in 2,000, which represents three million people in France. Most rare diseases (80%) are genetic in origin ; the earlier they start in childhood, the more severe they can be. Rare pediatric diseases include autoimmune diseases (systemic lupus, juvenile dermatomyositis and juvenile idiopathic arthritis) and autoimmune diseases (interferonopathies, FMF, CAPS, TRAPS, and DADA2). Systemic autoimmune diseases are characterized by an inappropriate adaptive immune response (mediated by autoreactive T and/or B lymphocytes) with the production of autoantibodies directed against the constituents of the self (tolerance breakdown). Autoinflammatory diseases, unlike autoimmune diseases, correspond to an excess in the innate immune response (cytokines, macrophages, NK cells, granulocytes, etc.)..The precise pathophysiological mechanisms of these diseases have yet to be fully elucidated. Recent research has led to advances in the diagnosis and identification of monogenic forms of these diseases, particularly in early onset, familial, and syndromic forms. Nevertheless, the rarity of these diseases and limited availability of biological samples are major challenges that need to be overcome.

Thus, the aims of this study were as follows:

  • The creation of a biological collection: primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, which, through various research projects, will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases.

Connect with a study center

  • Hôpital Nord (CHU ST-Etienne)

    Saint-Étienne, Saint Etienne
    France

    Site Not Available

  • Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant

    Bron, 69500
    France

    Active - Recruiting

  • Hôpital Couple Enfant

    Grenoble, 38043
    France

    Site Not Available

  • Hôpital Claude Huriez (CHU de Lille)

    Lille, 59037
    France

    Site Not Available

  • Hôpital Jeanne de Flandre (CHU de Lille)

    Lille, 59000
    France

    Site Not Available

  • Hôpital Archet 2

    Nice, 06200
    France

    Site Not Available

  • Hôpital Kremlin-Bicêtre (AP-HP)

    Paris, 94270
    France

    Site Not Available

  • Hôpital Necker-Enfants Malades (AP-HP)

    Paris, 75015
    France

    Site Not Available

  • Hôpital Robert Debré (AP-HP)

    Paris, 75935 Paris
    France

    Site Not Available

  • CLCC Henri Becquerel

    Rouen, 76038
    France

    Site Not Available

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.