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Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Not Applicable
Not yet recruiting
Conditions
Autoimmune Diseases
Systemic Lupus
Autoinflammatory Disease
Genetic Disease
Interventions
Genetic: Blood sample for genetic analysis
Other: Blood sample for immunological response assessments
Other: 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
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
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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)
Read More

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Patient with with a rare dysimmune diseaseBlood sample for genetic analysisminors 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 diseaseBlood sample for immunological response assessmentsminors 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 diseaseBlood sample to identify relevant biomarker of the diseaseminors 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 participantsBlood sample to identify relevant biomarker of the diseaseminor or adult participant without age restriction weighing more than 5 kg
Healthy volunteer participantsBlood sample for immunological response assessmentsminor or adult participant without age restriction weighing more than 5 kg
Primary Outcome Measures
NameTimeMethod
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhoodBaseline

Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).

Secondary Outcome Measures
NameTimeMethod
Levels of anti-double stranded DNABaseline

in patients sera

Levels of complement components C3 and C4Baseline

in patients sera

Level of IFN Signature scoreBaseline

Mesured by 6-gene Type 1 IFN Signature Score

Concentration of circulating IFN-alphaBaseline

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 autoantibodiesBaseline

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

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