Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases (GENIALII)

Civil Hospices of Lyon

Status: Enrolling

Conditions: Autoinflammatory Disease; Genetic Disease; Autoimmune Diseases; Systemic Lupus

Treatments: Other: Blood sample to identify relevant biomarker of the disease; Genetic: Blood sample for genetic analysis; Other: Blood sample for immunological response assessments

Study type: Interventional

Funder types: Other

Identifiers

NCT06435468

69HCL23_1252

Details and patient eligibility

About

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.

Full 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.

Enrollment: 400 estimated patients

Sex: All

Ages: 1+ year old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• 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

Exclusion criteria

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)

Trial design

Primary purpose: Other

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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400 participants in 2 patient groups

Patient with with a rare dysimmune disease

Experimental group

Description:

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.

Treatment:

Other: Blood sample for immunological response assessments

Genetic: Blood sample for genetic analysis

Other: Blood sample to identify relevant biomarker of the disease

Healthy volunteer participants

Other group

Description:

minor or adult participant without age restriction weighing more than 5 kg

Treatment:

Other: Blood sample for immunological response assessments

Other: Blood sample to identify relevant biomarker of the disease