Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
- Conditions
- Autoimmune DiseasesSystemic LupusAutoinflammatory DiseaseGenetic Disease
- Interventions
- Genetic: Blood sample for genetic analysisOther: Blood sample for immunological response assessmentsOther: Blood sample to identify relevant biomarker of the disease
- Registration Number
- NCT06435468
- Lead Sponsor
- Hospices Civils de Lyon
- Brief 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.
- Detailed Description
A disease is said to be "rare" when it affects one person in 2,000, which represents three million people in France. Most rare diseases (80%) are genetic in origin ; the earlier they start in childhood, the more severe they can be. Rare pediatric diseases include autoimmune diseases (systemic lupus, juvenile dermatomyositis and juvenile idiopathic arthritis) and autoimmune diseases (interferonopathies, FMF, CAPS, TRAPS, and DADA2). Systemic autoimmune diseases are characterized by an inappropriate adaptive immune response (mediated by autoreactive T and/or B lymphocytes) with the production of autoantibodies directed against the constituents of the self (tolerance breakdown). Autoinflammatory diseases, unlike autoimmune diseases, correspond to an excess in the innate immune response (cytokines, macrophages, NK cells, granulocytes, etc.)..The precise pathophysiological mechanisms of these diseases have yet to be fully elucidated. Recent research has led to advances in the diagnosis and identification of monogenic forms of these diseases, particularly in early onset, familial, and syndromic forms. Nevertheless, the rarity of these diseases and limited availability of biological samples are major challenges that need to be overcome.
Thus, the aims of this study were as follows:
- The creation of a biological collection: primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, which, through various research projects, will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases.
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 400
- 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
- Patient/parents/guardians who were informed of the study and signed the consent form.
- patient affiliated to a social security scheme
Healthy volunteer participants
- minor or adult participants with no age restrictions
- weight over 5 kg
- Subject /Parents/guardians who were informed of the study and signed a consent form.
- Patient affiliated to a social security scheme
Patients
- Subjects /Parents/guardians, refusing to participate in the study
Healthy volunteer participants :
- 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)
- Subjects/parents/guardians refusing to participate in the study
- Adults under legal protection (guardianship, curatorship)
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description Patient with with a rare dysimmune disease Blood sample for genetic analysis 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. Patient with with a rare dysimmune disease Blood sample for immunological response assessments 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. Patient with with a rare dysimmune disease Blood sample to identify relevant biomarker of the 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. Healthy volunteer participants Blood sample to identify relevant biomarker of the disease minor or adult participant without age restriction weighing more than 5 kg Healthy volunteer participants Blood sample for immunological response assessments minor or adult participant without age restriction weighing more than 5 kg
- Primary Outcome Measures
Name Time Method 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).
- Secondary Outcome Measures
Name Time Method Levels of anti-double stranded DNA Baseline in patients sera
Levels of complement components C3 and C4 Baseline in patients sera
Level of IFN Signature score Baseline Mesured by 6-gene Type 1 IFN Signature Score
Concentration of circulating IFN-alpha Baseline In serum using single-molecule array digital ELISA technology (Simoa)
Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) Baseline score (Min value: 0 - Max value: 105), with higher values mean higher disease activity
Presence or absence of anti-type I interferons autoantibodies Baseline in patients sera
Trial Locations
- Locations (10)
Service de rhumatologie p茅diatrique H么pital Femme-M猫re-enfant
馃嚝馃嚪Bron, France
H么pital Nord (CHU ST-Etienne)
馃嚝馃嚪Saint-脡tienne, Saint Etienne, France
H么pital Claude Huriez (CHU de Lille)
馃嚝馃嚪Lille, France
H么pital Archet 2
馃嚝馃嚪Nice, France
CLCC Henri Becquerel
馃嚝馃嚪Rouen, France
H么pital Robert Debr茅 (AP-HP)
馃嚝馃嚪Paris, France
H么pital Couple Enfant
馃嚝馃嚪Grenoble, France
H么pital Jeanne de Flandre (CHU de Lille)
馃嚝馃嚪Lille, France
H么pital Necker-Enfants Malades (AP-HP)
馃嚝馃嚪Paris, France
H么pital Kremlin-Bic锚tre (AP-HP)
馃嚝馃嚪Paris, France