Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

400 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-02-26

Study Completion Date

2035-07-27

Brief Summary

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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

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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.

Conditions

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Systemic Lupus Autoimmune Diseases Autoinflammatory Disease Genetic Disease

Keywords

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

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

prospective, multicenter, national study

Primary Study Purpose

OTHER

Blinding Strategy

NONE

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Blood sample for genetic analysis

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

Intervention Type GENETIC

Blood sample for immunological response assessments

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

Intervention Type OTHER

Blood sample to identify relevant biomarker of the disease

Research biomarkers for diagnosis, prognosis and monitoring of disease activity

Intervention Type OTHER

Eligibility Criteria

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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)

Minimum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Responsibility Role SPONSOR

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BELOT Alexandre, Pr

Role: CONTACT

Phone: + 33 4 27 85 61 26

Email: [email protected]

PLASSART Samira

Role: CONTACT

Phone: + 33 4 27 85 54 42

Identifier Type: -

Identifier Source: org_study_id

Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

Study Results

Basic Information

Brief Summary

Detailed Description

Conditions

Keywords

Study Design

Study Groups

Patient with with a rare dysimmune disease

Blood sample for genetic analysis

Blood sample for immunological response assessments

Blood sample to identify relevant biomarker of the disease

Healthy volunteer participants

Blood sample for immunological response assessments

Blood sample to identify relevant biomarker of the disease

Interventions

Blood sample for genetic analysis

Blood sample for immunological response assessments

Blood sample to identify relevant biomarker of the disease

Eligibility Criteria

Inclusion Criteria

Exclusion Criteria

Sponsors

Hospices Civils de Lyon

Responsible Party

Locations

Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant

Hôpital Jeanne de Flandre (CHU de Lille)

Hôpital Claude Huriez (CHU de Lille)

Hôpital Archet 2

Hôpital Necker-Enfants Malades (AP-HP)

Hôpital Robert Debré (AP-HP)

Hôpital Kremlin-Bicêtre (AP-HP)

Hôpital Nord (CHU ST-Etienne)

Hôpital Couple Enfant

Dr Isabelle MELKI

CLCC Henri Becquerel

Pr Ariane ZALOSZYC

Dr Vanessa Remy-Piccolo

Countries

Central Contacts

BELOT Alexandre, Pr

PLASSART Samira

Facility Contacts

BELOT Alexandre, Pr

REUMAUX Héloïse, MD

HACHULLA Éric, MD, PhD

DE GUILLEBON DE RESNES Jean-Marie, MD

Bader-Meunier Brigitte, MD

Meinzer Ulrich, MD, PhD

Koné-Paut Isabelle, MD, PhD

Franck Zekré, MD

PAGNIER Anne, MD

MELKI Isabelle

JARDIN Fabrice, MD, PhD

ZALOSZYC Ariane

Remy-Piccolo Vanessa

Other Identifiers

69HCL23_1252