Natural History of Type 1 Interferonopathies: Insights From a European Cohort

Sponsor
Imagine Institute
Study ID
NCT07040774
Status
Recruiting
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Conditions

  • Autoimmune Diseases
  • Genetic Disease
  • Immune Dysfunction
  • Neurological Diseases or Conditions

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

First listed
Jun 27, 2025
Start date
Oct 1, 2025
Status verified
May 2026
Primary completion
Oct 31, 2045
Completion
Oct 31, 2045

Study Design

Enrollment
500 participants (estimated)

Arms

  • Arm: Patients
    Patients with genetically confirmed type I interferonopathy

Primary Outcome Measure

Characterizing disease progression in pediatric and adult patients with type I interferonopathies [ Time Frame: 2025-2045 ]

Central Contacts

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