Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

NCT06435468 | Recruiting

• 1 other identifier: 69HCL23_1252
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 13

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.

Conditions

Systemic Lupus; Autoimmune Diseases; Autoinflammatory Disease; Genetic Disease

Keywords

Systemic Lupus; Genetic; rare autoimmune disease; rare autoinflammatory diseases; Pediatric-onset disease

Outcome Measures

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).

  Baseline

Secondary Outcomes (6)

• Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)

  Baseline

• Levels of anti-double stranded DNA

  Baseline

• Levels of complement components C3 and C4

  Baseline

• Level of IFN Signature score

  Baseline

• Concentration of circulating IFN-alpha

  Baseline

Study Arms (2)

Patient with with a rare dysimmune disease

EXPERIMENTAL

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.

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

Healthy volunteer participants

OTHER

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

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

Interventions

Blood sample for genetic analysis GENETIC

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

Patient with with a rare dysimmune disease

Blood sample for immunological response assessments OTHER

Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases

Healthy volunteer participants; Patient with with a rare dysimmune disease

Blood sample to identify relevant biomarker of the disease OTHER

Research biomarkers for diagnosis, prognosis and monitoring of disease activity

Healthy volunteer participants; Patient with with a rare dysimmune disease

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (13)

Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant

Bron, Bron, 69500, France

RECRUITING

Hôpital Jeanne de Flandre (CHU de Lille)

Lille, Lille, 59000, France

NOT YET RECRUITING

Hôpital Claude Huriez (CHU de Lille)

Lille, Lille, 59037, France

NOT YET RECRUITING

Hôpital Archet 2

Nice, Nice, 06200, France

NOT YET RECRUITING

Hôpital Necker-Enfants Malades (AP-HP)

Paris, Paris, 75015, France

NOT YET RECRUITING

Hôpital Robert Debré (AP-HP)

Paris, Paris, 75935 Paris, France

NOT YET RECRUITING

Hôpital Kremlin-Bicêtre (AP-HP)

Paris, Paris, 94270, France

NOT YET RECRUITING

Hôpital Nord (CHU ST-Etienne)

Saint-Etienne, Saint Etienne, France

NOT YET RECRUITING

Hôpital Couple Enfant

Grenoble, 38043, France

NOT YET RECRUITING

Dr Isabelle MELKI

Paris, 75012, France

RECRUITING

CLCC Henri Becquerel

Rouen, 76038, France

NOT YET RECRUITING

Pr Ariane ZALOSZYC

Strasbourg, France

RECRUITING

Dr Vanessa Remy-Piccolo

Villefranche-sur-Saône, France

RECRUITING

MeSH Terms

Conditions

Autoimmune Diseases; Genetic Diseases, Inborn

Interventions

Blood Specimen Collection; Genetic Testing

Condition Hierarchy (Ancestors)

Immune System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

BELOT Alexandre, Pr

CONTACT

+ 33 4 27 85 61 26; Alexandre.belot@chu-lyon.fr

PLASSART Samira

CONTACT

+ 33 4 27 85 54 42; Samira.plassart@chu-lyon.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: prospective, multicenter, national study

Study Record Dates

• First Submitted: May 7, 2024
• First Posted: May 30, 2024
• Study Start: February 26, 2025
• Primary Completion (Estimated): February 27, 2035
• Study Completion (Estimated): July 27, 2035
• Last Updated: December 22, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (13)