Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age1+
SponsorHospices Civils de Lyon
About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
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
Disqualifiers
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)
Trial design
Design model
Parallel
Treatments tested in this trial
Blood sample for genetic analysis
Geneticgenetic 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 interventionIdentifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases
Blood sample to identify relevant biomarker of the disease
Other interventionResearch biomarkers for diagnosis, prognosis and monitoring of disease activity
Treatment groups
400 Participants
are divided into 2 treatment groupsGroup A: Patient with with a rare dysimmune diseaseExperimental treatment 3 interventions
Group B: Healthy volunteer participantsOther 2 interventions
Trial outcomes
Primary outcomes
1
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).
Time frame
BaselineSecondary outcomes
1
Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)
score (Min value: 0 - Max value: 105), with higher values mean higher disease activity
Time frame
Baseline2
Levels of anti-double stranded DNA
in patients sera
Time frame
Baseline3
Levels of complement components C3 and C4
in patients sera
Time frame
Baseline4
Level of IFN Signature score
Mesured by 6-gene Type 1 IFN Signature Score
Time frame
BaselineSponsors and contacts
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Source ClinicalTrials.gov