Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases

Status: Recruiting
Location: See all (10) locations...
Intervention Type: Genetic, Other
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
France
Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant
RECRUITING
Bron
Hôpital Couple Enfant
NOT_YET_RECRUITING
Grenoble
Hôpital Claude Huriez (CHU de Lille)
NOT_YET_RECRUITING
Lille
Hôpital Jeanne de Flandre (CHU de Lille)
NOT_YET_RECRUITING
Lille
Hôpital Archet 2
NOT_YET_RECRUITING
Nice
Hôpital Kremlin-Bicêtre (AP-HP)
NOT_YET_RECRUITING
Paris
Hôpital Necker-Enfants Malades (AP-HP)
NOT_YET_RECRUITING
Paris
Hôpital Robert Debré (AP-HP)
NOT_YET_RECRUITING
Paris
CLCC Henri Becquerel
NOT_YET_RECRUITING
Rouen
Hôpital Nord (CHU ST-Etienne)
NOT_YET_RECRUITING
Saint-etienne
Contact Information
Primary
BELOT Alexandre, Pr
Alexandre.belot@chu-lyon.fr
+ 33 4 27 85 61 26
Backup
PLASSART Samira
Samira.plassart@chu-lyon.fr
+ 33 4 27 85 54 42
Time Frame
Start Date: 2025-02-26
Estimated Completion Date: 2035-07-27
Participants
Target number of participants: 400
Treatments
Experimental: Patient with with a rare dysimmune 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.
Other: Healthy volunteer participants
minor or adult participant without age restriction weighing more than 5 kg
Sponsors
Leads: Hospices Civils de Lyon

This content was sourced from clinicaltrials.gov