Natural History of Type 1 Interferonopathies: Insights From a European Cohort
EU-IFNp
1 other identifier
observational
500
11 countries
32
Brief Summary
Type I interferonopathies are rare autoinflammatory disorders caused by genetic defects and associated with significant morbidity and mortality. These diseases are refractory to conventional immunosuppressive therapies. They typically occur in childhood, although disease onset in adulthood has been observed. The clinical spectrum is wide and mainly involves the central nervous system. Joint involvement is also common, and more rarely, haematological features such as cytopenias or immunodeficiency may be observed. Nearly all patients show consistent over-activation of the type I IFN pathway, as evidenced, the expression of IFN-stimulated genes, the so-called 'interferon signature'. To date, the natural history of interferonopathies remains unclear. In this context, the establishment of a natural history of type I interferonopathy in patients is proposed to elucidate the pathophysiological mechanisms and identify biomarkers for diagnosis, prognosis, and disease activity, with the aim of better characterising the diversity of interferonopathies. The main objective is to characterise the evolution of the pathology in paediatric and adult patients with type I interferonopathies. The overall aim of this research is to propose therapeutic options tailored to patient phenotypes and to better define patient sub-groups in order to optimise the preparation of future clinical trials.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2025
Longer than P75 for all trials
32 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
June 12, 2025
CompletedFirst Posted
Study publicly available on registry
June 27, 2025
CompletedStudy Start
First participant enrolled
October 1, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2045
ExpectedStudy Completion
Last participant's last visit for all outcomes
October 1, 2045
May 13, 2026
May 1, 2026
20 years
June 12, 2025
May 12, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Characterizing disease progression in pediatric and adult patients with type I interferonopathies
Composite description of phenotypes of patients with type I interferonopathies according to genotype (clinical, biological) over time.
2025-2045
Secondary Outcomes (3)
Identifing and characterising genotype-specific immunological factors
2025-2045
Research of biomarkers for diagnosis, prognosis and monitoring of disease activity
2025-2045
Monitoring of treatment response according to phenotype and genotype
2025-2045
Study Arms (1)
Patients
Patients with genetically confirmed type I interferonopathy
Eligibility Criteria
Patients with genetically confirmed type I interferonopathy in Europe. 500 patients estimated.
You may qualify if:
- Genetically confirmed patient with type I interferonopathy
- Patient affiliated to a social security scheme or beneficiary of such a scheme.
You may not qualify if:
- \- Opposition of the patient and/or parental authority if the patient is a minor, to participation in the study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (32)
Medical University Innsbruck
Innsbruck, Austria
Antwerp University Hospital
Antwerp, Belgium
Children's Hospital Zagreb
Zagreb, Croatia
Motol University Hospital
Prague, Czechia
CHU d'Angers
Angers, 49000, France
Hôpital de Mercy - CHR Metz Thionville
Ars-Laquenexy, 57530, France
CHU de Besançon
Besançon, 25030, France
CHU de Bordeaux
Bordeaux, France
CHU Morvan
Brest, 29200, France
Hôpital Femme Mère Enfant - HCL
Bron, 69500, France
CHU de Dijon
Dijon, 21231, France
Hôpitaux Nord Ouest Villefranche
Gleizé, 69400, France
Hôpital Bicêtre
Le Kremlin-Bicêtre, 94270, France
Hôpital Claude Huriez, CHU de Lille
Lille, 59000, France
APHM Hôpitaux de Marseille
Marseille, France
CHU de Montpellier
Montpellier, 34295, France
CHRU Nancy
Nancy, France
CHU de Nantes
Nantes, 44000, France
CH Agen-Nérac
Nérac, 47600, France
Hôpital de l'Archet
Nice, 06200, France
Hôpital Armand Trousseau
Paris, 75012, France
Hôpital Bichat
Paris, 75018, France
Hôpital Robert Debré
Paris, 75019, France
Hôpital des Enfants - CHU de Toulouse
Toulouse, 31300, France
Hôpital Necker Enfants Malades
Paris, Île-de-France Region, 75015, France
University of Tübingen
Tübingen, Germany
Meyer Children's Hospital IRCCS
Florence, Italy
Hospital Universitari Vall d'Hebron
Barcelona, Spain
Hospital Universitario Son Espases
Palma de Mallorca, Spain
Karolinska University Hospital
Stockholm, Sweden
Hacettepe İhsan Doğramacı Children's Hospital
Ankara, Turkey (Türkiye)
Leeds Teaching Hospitals NHS Trust
Leeds, United Kingdom
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
June 12, 2025
First Posted
June 27, 2025
Study Start
October 1, 2025
Primary Completion (Estimated)
October 1, 2045
Study Completion (Estimated)
October 1, 2045
Last Updated
May 13, 2026
Record last verified: 2026-05