Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Condition(s) studied

Investigational drug(s) / intervention(s)

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

Blood sample for immunological response assessments: Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases

Blood sample to identify relevant biomarker of the disease: Research biomarkers for diagnosis, prognosis and monitoring of disease activity

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

Primary outcome measure(s)

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

Trial sites (13)

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