Natural History of Type 1 Interferonopathies: Insights From a European Cohort
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions, Autoimmune Diseases. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Austria, Belgium, Croatia, Czechia, France +6
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- Characterizing disease progression in pediatric and adult patients with type I interferonopathies [Time frame: 2025-2045]
Secondary outcome measures (3)
- Identifing and characterising genotype-specific immunological factors [Time frame: 2025-2045]
- Research of biomarkers for diagnosis, prognosis and monitoring of disease activity [Time frame: 2025-2045]
- Monitoring of treatment response according to phenotype and genotype [Time frame: 2025-2045]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 21 centers
- CHU d'Angers — Angers
- Hôpital de Mercy - CHR Metz Thionville — Ars-Laquenexy
- CHU de Besançon — Besançon
- CHU de Bordeaux — Bordeaux
- CHU Morvan — Brest
- Hôpital Femme Mère Enfant - HCL — Bron
- CHU de Dijon — Dijon
- Hôpitaux Nord Ouest Villefranche — Gleizé
- … and 13 more centers
Spain · 2 centers
- Hospital Universitari Vall d'Hebron — Barcelona
- Hospital Universitario Son Espases — Palma de Mallorca
Austria · 1 center
- Medical University Innsbruck — Innsbruck
Belgium · 1 center
- Antwerp University Hospital — Antwerp
Croatia · 1 center
- Children's Hospital Zagreb — Zagreb
Czechia · 1 center
- Motol University Hospital — Prague
Germany · 1 center
- University of Tübingen — Tübingen
Italy · 1 center
- Meyer Children's Hospital IRCCS — Florence
Sweden · 1 center
- Karolinska University Hospital — Stockholm
Turkey (Türkiye) · 1 center
- Hacettepe İhsan Doğramacı Children's Hospital — Ankara
United Kingdom · 1 center
- Leeds Teaching Hospitals NHS Trust — Leeds
Identifiers
NCT: NCT07040774 · HJ-24-EU-IFNp