- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05364294
Molecular Diagnosis of Systemic Autoinflammatory Diseases (SAIDiag)
January 30, 2024 updated by: Institut National de la Santé Et de la Recherche Médicale, France
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.
Study Overview
Status
Recruiting
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 Type
Observational
Enrollment (Estimated)
300
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Irina GIURGEA
- Phone Number: +33144735295
- Email: irina.giurgea@inserm.fr
Study Locations
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Paris, France, 75012
- Recruiting
- Trousseau Hospital
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Contact:
- Irina GIURGEA, MD-PhD
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Contact:
- Email: irina.giurgea@inserm.fr
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-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
1 week to 120 years (Child, Adult, Older Adult)
Accepts Healthy Volunteers
Yes
Sampling Method
Probability Sample
Study Population
Participants in this research will be recruited during a follow-up consultation for their condition.
Description
Inclusion Criteria:
- A patient presenting with a clinical and biological aseptic inflammatory syndrome associating one or more of the following signs: spontaneously resolving fever, abdominal (pain, diarrhea), locomotor (arthralgia, myalgia), thoracic (pain, pericarditis), cutaneous, sensory (uveitis, deafness), or renal (amyloidosis) involvement.
Exclusion Criteria:
- Adult subject to legal protection measures (guardianship, curatorship, safeguard of justice).
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
To identify SAIDs disease-causing mutations and genes and to explore specific biological signatures.
Time Frame: Anytime in the period of 10 years
|
Molecular studies will be performed through the use of a SAID next generation sequencing (NGS) gene panel, followed by whole exome/genome sequencing (WES/WGS) in patients with no obvious genetic abnormality identified by the gene panel.
When possible trio studies (the patient and his parents) will be performed in order to facilitate the interpretation of the molecular variants.
Transcriptomics and cytokines profiles will be performed on whole blood cells to identify weakly expressed genes/proteins and by single cell experiments in order to assess cell-specific expression.
These data will permit to better shape functional studies and to explore specific biological signatures.
|
Anytime in the period of 10 years
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To identify novel and better assess the disease pathways
Time Frame: Anytime in the period of 10 years
|
Functional studies will be performed to evaluate the pathogenicity of the identified molecular variants, to assess the involvement of new candidate genes in SAIDs, to characterize the molecular networks to which the corresponding proteins belong and to open up new therapeutic avenues.
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Anytime in the period of 10 years
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
To propose personalized treatment options
Time Frame: Anytime in the period of 10 years
|
Depending on the disease gene identified and on the involved signalling pathway, specific biotherapies could be proposed to SAID patients.
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Anytime in the period of 10 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
May 18, 2022
Primary Completion (Estimated)
May 31, 2032
Study Completion (Estimated)
May 2, 2033
Study Registration Dates
First Submitted
April 8, 2022
First Submitted That Met QC Criteria
May 3, 2022
First Posted (Actual)
May 6, 2022
Study Record Updates
Last Update Posted (Actual)
January 31, 2024
Last Update Submitted That Met QC Criteria
January 30, 2024
Last Verified
January 1, 2024
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- C20-97
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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