Identifying genes in systemic autoinflammatory diseases
Official title: Molecular Diagnosis of Systemic Autoinflammatory Diseases
Run by Institut National de la Santé Et de la Recherche Médicale, France · NCT05364294 · Data updated 2026-11-12
This study is trying to find new genes linked to rare autoinflammatory diseases to help doctors diagnose and treat patients better.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Week to 120 Years |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | May 18, 2022 |
| Main results expected | May 31, 2032 |
| Study ends | May 2, 2033 |
| Registry record updated | March 5, 2026 |
| Trial ID | NCT05364294 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are patients exhibiting clinical signs of aseptic inflammatory syndromes, such as spontaneously resolving fever and various organ involvements.
✕Probably not a fit
Patients with adult legal protection measures may not benefit from this study due to exclusion criteria.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project focuses on systemic autoinflammatory diseases (SAIDs), which are rare and genetically diverse conditions characterized by intermittent febrile crises and inflammation. The study aims to identify novel genes and specific molecular signatures in patients with SAIDs, particularly those with unknown causes. By advancing the understanding of the pathophysiology of SAIDs, the researchers hope to facilitate faster diagnoses and personalized treatment strategies based on the identified genetic variations. The study will involve observational assessments of patients presenting with specific inflammatory symptoms.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted therapies for patients suffering from systemic autoinflammatory diseases.
How similar studies have gone: While there have been advances in understanding SAIDs, this study aims to explore novel genetic aspects, making it a potentially novel approach in this field.
Who can join: the full rules
Show full inclusion / exclusion criteria
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).
Where it's running
-
Trousseau Hospital
Paris, France Recruiting
Study contacts
- Study coordinator: Irina GIURGEA
- Email: irina.giurgea@inserm.fr
- Phone: +33144735295
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Multimodal Eye Data Bank to Explore Inflammation-Related Eye Diseases
This observational effort collects rich eye-imaging data from people with inflammatory and retinal conditions to see how the front and back of the eye relate and to build a standardized database that could support future AI tools.
-
Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life
This project will collect small biological samples from pregnant families and newborns to try whole-genome sequencing and other multi-omics tests to find genetic disease risks.
-
Multicenter study of SHANK3-related Phelan-McDermid syndrome genetic modifiers
Researchers are testing how other genes may modify the PMS clinical picture in people with SHANK3-related deletions or variants.
-
Prenatal cfDNA Screening in Pregnancies with Diverse Genetic Risk Profiles
This study tests two cfDNA approaches from a single maternal blood sample to see if they can detect a wide range of fetal genetic conditions in pregnant people with various risk factors.
-
Natural history of type I interferonopathies in a European patient group
This project will follow people with genetically confirmed type I interferonopathies across European centers to see how the disease develops and which clinical and blood markers track disease activity.
-
Speech-generating device to help communication in childhood dementia
This project will test whether giving children with childhood dementia a speech-generating iPad app helps them communicate better than their usual care.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.