Natural history of type I interferonopathies in a European patient group
Official title: Natural History of Type 1 Interferonopathies: Insights From a European Cohort
Run by Imagine Institute · NCT07040774 · Data updated 2026-11-12
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.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | Imagine Institute Academic / other |
| Locations | 32 sites (Innsbruck and 31 other locations) |
| Status | Recruiting |
| Started | October 1, 2025 |
| Main results expected | October 2045 |
| Study ends | October 2045 |
| Registry record updated | September 10, 2026 |
| Trial ID | NCT07040774 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People of any age with a genetically confirmed type I interferonopathy who are registered with or beneficiaries of a social security scheme and can attend one of the participating European centers.
✕Probably not a fit
Patients without a confirmed pathogenic genetic diagnosis of a type I interferonopathy, those expecting direct therapeutic intervention from participation, or those unable to attend participating sites are unlikely to receive clinical benefit from this observational protocol.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a multicenter observational cohort collecting clinical, genetic, and laboratory data from patients with genetically confirmed type I interferonopathies across European sites. Investigators will record neurological, joint, and hematological features and measure the interferon-stimulated gene expression ('interferon signature') over time. No investigational drugs are given; instead the study aims to define the natural history, identify biomarkers for diagnosis and prognosis, and inform endpoints for future trials. Data will be used to better understand variability in onset, progression, and response to standard supportive treatments.
Why it matters
Potential benefit: If successful, the project could improve earlier diagnosis, help predict disease course, and guide selection of biomarkers and endpoints for future targeted therapies.
How similar studies have gone: Smaller case series and treatment reports have consistently documented the interferon signature and shown clinical responses to targeted agents like JAK inhibitors, but large, systematic natural-history cohorts remain limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Genetically confirmed patient with type I interferonopathy * Patient affiliated to a social security scheme or beneficiary of such a scheme. Exclusion Criteria: \- Opposition of the patient and/or parental authority if the patient is a minor, to participation in the study.
Where it's running
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Motol University Hospital
Prague, Czechia Recruiting -
CHU d'Angers
Angers, France Recruiting -
Hôpital de Mercy - CHR Metz Thionville
Ars-Laquenexy, France Recruiting -
CHU de Besançon
Besançon, France Recruiting -
CHU Morvan
Brest, France Recruiting -
Hôpital Femme Mère Enfant - HCL
Bron, France Recruiting
Show 26 more locations
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Hôpitaux Nord Ouest Villefranche
Gleizé, France Recruiting -
APHM Hôpitaux de Marseille
Marseille, France Recruiting -
CHU de Montpellier
Montpellier, France Recruiting -
CHRU Nancy
Nancy, France Recruiting -
CHU de Nantes
Nantes, France Recruiting -
CH Agen-Nérac
Nérac, France Recruiting -
Hôpital de l'Archet
Nice, France Recruiting -
Hôpital des Enfants - CHU de Toulouse
Toulouse, France Recruiting -
Hôpital Necker Enfants Malades
Paris, Île-de-France Region, France Recruiting -
University of Tübingen
Tübingen, Germany Recruiting -
Meyer Children's Hospital IRCCS
Florence, Italy Recruiting -
Hacettepe İhsan Doğramacı Children's Hospital
Ankara, Turkey (Türkiye) Recruiting -
Medical University Innsbruck
Innsbruck, Austria Not yet recruiting -
Antwerp University Hospital
Antwerp, Belgium Not yet recruiting -
Children's Hospital Zagreb
Zagreb, Croatia Not yet recruiting -
CHU de Bordeaux
Bordeaux, France Not yet recruiting -
CHU de Dijon
Dijon, France Not yet recruiting -
Hôpital Bicêtre
Le Kremlin-Bicêtre, France Not yet recruiting -
Hôpital Claude Huriez, CHU de Lille
Lille, France Not yet recruiting -
Hôpital Armand Trousseau
Paris, France Not yet recruiting -
Hôpital Bichat
Paris, France Not yet recruiting -
Hôpital Robert Debré
Paris, France Not yet recruiting -
Hospital Universitari Vall d'Hebron
Barcelona, Spain Not yet recruiting -
Hospital Universitario Son Espases
Palma de Mallorca, Spain Not yet recruiting -
Karolinska University Hospital
Stockholm, Sweden Not yet recruiting -
Leeds Teaching Hospitals NHS Trust
Leeds, United Kingdom Not yet recruiting
Study contacts
- Study coordinator: Marie-Louise FREMOND, Pr
- Email: marie-louise.fremond@institutimagine.org
- Phone: 01 44 49 48 24
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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.