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Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

NCT06435468 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 400

Last updated 2025-12-22

No results posted yet for this 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.

Conditions

Interventions

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

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
OTHER
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-02-26
Primary Completion
2035-02-27
Completion
2035-07-27

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06435468 on ClinicalTrials.gov