Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT05364294
Study type Observational
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact Irina GIURGEA
Phone +33144735295
Email irina.giurgea@inserm.fr
Status Recruiting
Phase
Start date May 18, 2022
Completion date May 2, 2033

See also
  Status Clinical Trial Phase
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03292302 - Phase 1 Study of ELX-02 in Healthy Adults Phase 1
Withdrawn NCT03658382 - Virtual Visits for Results Disclosure N/A
Recruiting NCT02266615 - Biobank Clinical Genetics Maastricht (KG01)
Recruiting NCT02450851 - Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Recruiting NCT05472714 - Educational Video for Genetic Testing N/A
Recruiting NCT04285814 - Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
Completed NCT05443113 - Young Pectus Excavatum Patients and Genetic Defects
Completed NCT05655741 - Modified Delphi for Genomic Bereavement Care
Completed NCT03847909 - A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 Phase 2
Completed NCT04584528 - Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease N/A
Not yet recruiting NCT06048523 - Prospective Cohort Study of Neurogenetic Diseases N/A
Completed NCT02225522 - Genomic Sequencing in Acutely Ill Neonates N/A
Enrolling by invitation NCT06089954 - Penn Medicine Biobank Return of Results Program N/A
Completed NCT03713333 - Implementing Digital Health in a Learning Health System N/A
Completed NCT03309605 - Phase 1 Study of ELX-02 in Healthy Adult Subjects Phase 1
Recruiting NCT05499091 - Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN N/A
Completed NCT04556487 - Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Completed NCT04556500 - Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
Recruiting NCT02551081 - Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units