Biological Collection to Study Genetic and Immune Abnormalities in Rare Childhood-Onset Autoimmune and Autoinflammatory Diseases

What this Trial Is About

Rare diseases affect about one in 2,000 people, including approximately three million in France, and many are genetic, often beginning severely in childhood. This research focuses on rare pediatric autoimmune and autoinflammatory diseases such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis. These diseases involve either the bodys adaptive immune system attacking itself or an excessive innate immune response, and the exact causes remain not fully understood. Recent advances have improved diagnosis, especially in early, familial, and syndromic cases, but studying these conditions is challenging due to their rarity and limited biological samples. The study aims to build a biological collection of samples including primary cells, DNA, RNA, lymphoblastic lines, and serum. This collection will support various research projects to identify genetic and immunological abnormalities linked to these rare diseases. Participants include minors or adults with rare dysimmune diseases starting in childhood or with familial or syndromic forms, as well as healthy volunteers, with no upper age limit but weighing over 5 kg. Participants provide blood samples for genetic analysis and immunological assessments to identify mutations and biomarkers related to disease diagnosis, prognosis, and activity. Researchers will measure mutations responsible for these diseases and assess disease activity using tools like the Systemic Lupus Erythematosus Disease Activity Index and biomarkers including anti-double stranded DNA and interferon levels. The study includes consented patients and healthy volunteers affiliated with social security, with ongoing monitoring for safety and comprehensive data collection throughout the study period.

Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases