Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases (GENIALII)

December 15, 2025 updated by: Hospices Civils de Lyon

Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed 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.

Study Type

Interventional

Enrollment (Estimated)

400

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
    • Bron
      • Bron, Bron, France, 69500
        • Recruiting
        • Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant
        • Contact:
          • BELOT Alexandre, Pr
    • Lille
      • Lille, Lille, France, 59000
      • Lille, Lille, France, 59037
    • Nice
    • Paris
      • Paris, Paris, France, 75015
      • Paris, Paris, France, 75935 Paris
        • Not yet recruiting
        • Hôpital Robert Debré (AP-HP)
        • Contact:
      • Paris, Paris, France, 94270
        • Not yet recruiting
        • Hôpital Kremlin-Bicêtre (AP-HP)
        • Contact:
          • Koné-Paut Isabelle, MD, PhD
    • Saint Etienne
      • Saint-Etienne, Saint Etienne, France

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Patients
  • minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<18 years), or syndromic or familial
  • relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<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 consent form.
  • 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 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Patient with with a rare dysimmune disease
minors or adults of any age with a rare dysimmune disease characterized by autoimmunity, autoinflammation or early lymphoproliferation, with onset in childhood (<18 years), or syndromic or familial.
Genetic: Blood sample for genetic analysis
genetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Other: Blood sample for immunological response assessments
Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases
Other: Blood sample to identify relevant biomarker of the disease
Research biomarkers for diagnosis, prognosis and monitoring of disease activity
Other: Healthy volunteer participants
minor or adult participant without age restriction weighing more than 5 kg
Other: Blood sample for immunological response assessments
Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases
Other: Blood sample to identify relevant biomarker of the disease
Research biomarkers for diagnosis, prognosis and monitoring of disease activity

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Time Frame: Baseline
Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).
Baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)
Time Frame: Baseline
score (Min value: 0 - Max value: 105), with higher values mean higher disease activity
Baseline
Levels of anti-double stranded DNA
Time Frame: Baseline
in patients sera
Baseline
Levels of complement components C3 and C4
Time Frame: Baseline
in patients sera
Baseline
Level of IFN Signature score
Time Frame: Baseline
Mesured by 6-gene Type 1 IFN Signature Score
Baseline
Concentration of circulating IFN-alpha
Time Frame: Baseline
In serum using single-molecule array digital ELISA technology (Simoa)
Baseline
Presence or absence of anti-type I interferons autoantibodies
Time Frame: Baseline
in patients sera
Baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hospices Civils de Lyon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 26, 2025

Primary Completion (Estimated)

February 27, 2035

Study Completion (Estimated)

July 27, 2035

Study Registration Dates

First Submitted

May 7, 2024

First Submitted That Met QC Criteria

May 24, 2024

First Posted (Actual)

May 30, 2024

Study Record Updates

Last Update Posted (Actual)

December 22, 2025

Last Update Submitted That Met QC Criteria

December 15, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 69HCL23_1252

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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