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Natural history of type I interferonopathies in a European patient group

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

Observational Imagine Institute · NCT07040774

This project will follow people with genetically confirmed type I interferonopathies across European centers to see how the disease develops and which clinical and blood markers track disease activity.

Quick facts

Study typeObservational
Enrollment500 (estimated)
SexAll
SponsorImagine Institute Academic / other
Locations32 sites (Innsbruck and 31 other locations)
Trial IDNCT07040774 on ClinicalTrials.gov

What this trial studies

This is a multicenter observational cohort collecting clinical, genetic, and laboratory data from patients with genetically confirmed type I interferonopathies across European sites. Investigators will record neurological, joint, and hematological features and measure the interferon-stimulated gene expression ('interferon signature') over time. No investigational drugs are given; instead the study aims to define the natural history, identify biomarkers for diagnosis and prognosis, and inform endpoints for future trials. Data will be used to better understand variability in onset, progression, and response to standard supportive treatments.

Who should consider this trial

Good fit: People of any age with a genetically confirmed type I interferonopathy who are registered with or beneficiaries of a social security scheme and can attend one of the participating European centers.

Not a fit: Patients without a confirmed pathogenic genetic diagnosis of a type I interferonopathy, those expecting direct therapeutic intervention from participation, or those unable to attend participating sites are unlikely to receive clinical benefit from this observational protocol.

Why it matters

Potential benefit: If successful, the project could improve earlier diagnosis, help predict disease course, and guide selection of biomarkers and endpoints for future targeted therapies.

How similar studies have performed: Smaller case series and treatment reports have consistently documented the interferon signature and shown clinical responses to targeted agents like JAK inhibitors, but large, systematic natural-history cohorts remain limited.

Eligibility criteria

Show full inclusion / exclusion 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.

Where this trial is running

Innsbruck and 31 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Genetic DiseaseImmune DysfunctionNeurological Diseases or ConditionsAutoimmune DiseasesImmune dysfuntionNeurological diseaseAutoimmune diseasesGenetics diseases
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.