Ignite Creation Date:
2025-12-25 @ 1:34 AM
Ignite Modification Date:
2025-12-27 @ 7:04 AM
Study NCT ID:
NCT05364294
Status:
RECRUITING
Last Update Posted:
2025-02-10
First Post:
2022-04-08
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Sponsor:
Institut National de la Santé Et de la Recherche Médicale, France
Organization:
Study Overview
Official Title:
Molecular Diagnosis of Systemic Autoinflammatory Diseases
Status:
RECRUITING
Status Verified Date:
2025-02
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:
SAIDiag
Brief Summary:
Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
Detailed Description:
SAIDs are characterized by long dormant periods with no or only minor clinical symptoms interrupted by febrile crises accompanied by serous and synovial membrane inflammation that spontaneously resolves. Over the last decades, more than 50 genes encoding key components of the innate immune system have been identified to be involved in the pathophysiology of SAIDs, with both germline and somatic mosaic variations. When disease-causing variations are identified, specific biotherapies are proposed depending on the involved gene and pathway. However, despite these scientific advances, most SAIDs (70%) are of unknown etiology, the diagnosis is made with significant delay, and no targeted therapy can be suggested. This project aims to generate specific understanding and develop strategies for SAID patients with unknown etiology. The investigators aim to advance our understanding of SAIDs pathophysiology, find the disease-causing gene variations and identify the involved cellular pathways that should accelerate correct diagnosis and personalize treatment.
Study Oversight
Has Oversight DMC:
False
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?: