An observational study in Genetic Disease, Immune Dysfunction and Neurological Diseases or Conditions, sponsored by Imagine Institute. Recruiting at 32 sites in 11 countries. Per ClinicalTrials.gov, last updated 2026-09-10.
Sponsored by Imagine Institute · Observational
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.
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's planned enrollment of 500 is above the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Imagine Institute is the lead sponsor of 31 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with genetically confirmed type I interferonopathy in Europe. 500 patients estimated.
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Exclusion Criteria:
- Opposition of the patient and/or parental authority if the patient is a minor, to participation in the study.
Patients with genetically confirmed type I interferonopathy
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.
Time frame: 2025-2045
Identifing and characterising genotype-specific immunological factors
Description of specific immunological factors according to genotype
Time frame: 2025-2045
Research of biomarkers for diagnosis, prognosis and monitoring of disease activity
Biomarkers identified for diagnosis, prognosis and monitoring of disease activity
Time frame: 2025-2045
Monitoring of treatment response according to phenotype and genotype
Treatment response by phenotype and genotype
Time frame: 2025-2045
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