Ignite Creation Date:
2024-06-16 @ 11:49 AM
Last Modification Date:
2024-10-26 @ 3:30 PM
Study NCT ID:
NCT06435468
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-05-30
First Post:
2024-05-07
Brief Title:
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GENIALII
Brief Summary:
Rare diseases are defined as those that affect one person in 2000 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
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 2000 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 andor 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 etcThe 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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None