Identifying genes in systemic autoinflammatory diseases
Molecular Diagnosis of Systemic Autoinflammatory Diseases
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 |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 1 Week to 120 Years |
| Sex | All |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France Government |
| Locations | 1 site (Paris) |
| Trial ID | NCT05364294 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
Not a fit: Patients with adult legal protection measures may not benefit from this study due to exclusion criteria.
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 performed: 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.
Eligibility criteria
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 this trial is running
Paris
- Trousseau Hospital — Paris, France (Recruiting)
Study contacts
- Study coordinator: Irina GIURGEA
- Email: irina.giurgea@inserm.fr
- Phone: +33144735295
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.