Autoimmune Diseases, Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions
Conditions
Keywords
Immune dysfuntion, Neurological disease, Autoimmune diseases, Genetics diseases, Interferon, Aicardi-Goutieres Syndrom
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.
Interventions
None listed
Sponsors
Imagine Institute
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Characterizing disease progression in pediatric and adult patients with type I interferonopathies | 2025-2045 | Composite description of phenotypes of patients with type I interferonopathies according to genotype (clinical, biological) over time. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identifing and characterising genotype-specific immunological factors | 2025-2045 | Description of specific immunological factors according to genotype |
| Research of biomarkers for diagnosis, prognosis and monitoring of disease activity | 2025-2045 | Biomarkers identified for diagnosis, prognosis and monitoring of disease activity |
| Monitoring of treatment response according to phenotype and genotype | 2025-2045 | Treatment response by phenotype and genotype |
Countries
Austria, Belgium, Croatia, Czechia, France, Germany, Italy, Spain, Sweden, Turkey (Türkiye), United Kingdom
Contacts
CONTACTMarie-Louise FREMOND, Pr
Outcome results
None listed