Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Sponsor
Hospices Civils de Lyon
Study ID
NCT06435468
Status
Recruiting
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Conditions

  • Autoimmune Diseases
  • Autoinflammatory Disease
  • Genetic Disease
  • Systemic Lupus

Eligibility Criteria

Sex
ALL
Age
1 Year - N/A
Healthy Volunteers
Accepted

Interventions

  • Blood sample for genetic analysis — GENETIC
    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
  • Blood sample for immunological response assessments — OTHER
    Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases
  • Blood sample to identify relevant biomarker of the disease — OTHER
    Research biomarkers for diagnosis, prognosis and monitoring of disease activity

Study Details

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.

Key Dates

First listed
May 30, 2024
Start date
Feb 26, 2025
Status verified
Dec 2025
Primary completion
Feb 27, 2035
Completion
Jul 27, 2035

Study Design

Enrollment
400 participants (estimated)
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
OTHER

Arms

  • 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.
  • Other: Healthy volunteer participants
    minor or adult participant without age restriction weighing more than 5 kg

Primary Outcome Measure

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 ]

Central Contacts

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