Natural History of Type 1 Interferonopathies: Insights From a European Cohort (EU-IFNp)

May 12, 2026 updated by: Imagine Institute

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Austria
      • Innsbruck, Austria
        • Not yet recruiting
        • Medical University Innsbruck
        • Contact:
        • Principal Investigator:
          • Philipp GAUCKLER, Dr
  • Belgium
      • Antwerp, Belgium
        • Not yet recruiting
        • Antwerp University Hospital
        • Contact:
        • Principal Investigator:
          • Benson OGUNJIMI, Dr
  • Croatia
      • Zagreb, Croatia
        • Not yet recruiting
        • Children's Hospital Zagreb
        • Contact:
          • Alenka GAGRO, Dr
        • Principal Investigator:
          • Alenka GAGRO, Dr
  • Czechia
      • Prague, Czechia
        • Not yet recruiting
        • Motol University Hospital
        • Contact:
        • Principal Investigator:
          • Markéta BLOOMFIELD, Dr
        • Sub-Investigator:
          • Dita CEBECAUROVA, Dr
  • France
      • Angers, France, 49000
      • Ars-Laquenexy, France, 57530
      • Besançon, France, 25030
        • Recruiting
        • CHU de BESANCON
        • Contact:
        • Principal Investigator:
          • Claire BALLOT-SCHMIT, Dr
      • Bordeaux, France
      • Brest, France, 29200
      • Bron, France, 69500
        • Recruiting
        • Hôpital Femme Mère Enfant - HCL
        • Contact:
        • Principal Investigator:
          • Alexandre BELOT, Dr
      • Dijon, France, 21231
      • Gleizé, France, 69400
        • Recruiting
        • Hôpitaux Nord Ouest Villefranche
        • Contact:
        • Principal Investigator:
          • Vanessa REMY PICCOLO, Dr
      • Le Kremlin-Bicêtre, France, 94270
        • Not yet recruiting
        • Hopital Bicetre
        • Contact:
        • Principal Investigator:
          • Kumaran DEIVA, Pr
      • Lille, France, 59000
        • Not yet recruiting
        • Hôpital Claude Huriez, CHU de Lille
        • Principal Investigator:
          • Eric HACHULLA, Pr
        • Contact:
      • Marseille, France
        • Recruiting
        • APHM Hôpitaux de Marseille
        • Contact:
        • Principal Investigator:
          • Anne-Laure JURQUET, Dr
      • Montpellier, France, 34295
        • Recruiting
        • CHU de Montpellier
        • Contact:
        • Principal Investigator:
          • Aurélia a-carbasse@chu-montpellier.fr, Dr
      • Nancy, France
        • Recruiting
        • CHRU Nancy
        • Contact:
        • Principal Investigator:
          • Anne MIRGUET, Dr
      • Nantes, France, 44000
      • Nice, France, 06200
        • Recruiting
        • Hopital de l'archet
        • Contact:
        • Principal Investigator:
          • Julie BERNARDOR, Dr
      • Nérac, France, 47600
        • Recruiting
        • CH Agen-Nérac
        • Contact:
        • Principal Investigator:
          • Mélanie RORIZ, Dr
      • Paris, France, 75018
        • Not yet recruiting
        • Hopital Bichat
        • Contact:
        • Principal Investigator:
          • Clémence DAVID, Dr
      • Paris, France, 75019
        • Not yet recruiting
        • Hopital Robert Debre
        • Contact:
        • Principal Investigator:
          • Ulric MEINZER, Dr
      • Paris, France, 75012
        • Not yet recruiting
        • Hôpital Armand Trousseau
        • Contact:
        • Principal Investigator:
          • Isabelle MELKI, Dr
        • Sub-Investigator:
          • Nadia NATHAN, Dr
        • Sub-Investigator:
          • Florence RENALDO, Dr
      • Toulouse, France, 31300
        • Recruiting
        • Hôpital des Enfants - CHU de Toulouse
        • Contact:
        • Principal Investigator:
          • Léa RODITIS, Dr
    • Île-de-France Region
      • Paris, Île-de-France Region, France, 75015
        • Recruiting
        • Hopital Necker Enfants Malades
        • Contact:
        • Principal Investigator:
          • Marie-Louise FREMOND, Pr
        • Sub-Investigator:
          • Anne WELFRINGER, Dr
        • Sub-Investigator:
          • Bénédicte NEVEN, Pr
        • Sub-Investigator:
          • Marie HULLY, Dr
        • Sub-Investigator:
          • Alice HADCHOUEL, Pr
  • Germany
      • Tübingen, Germany
        • Not yet recruiting
        • University of Tubingen
        • Contact:
          • Özlem SATIRER
        • Principal Investigator:
          • Özlem SATIRER, Dr
  • Italy
      • Florence, Italy
        • Not yet recruiting
        • Meyer Children's Hospital IRCCS
        • Contact:
        • Principal Investigator:
          • Lorenzo LODI, Dr
  • Spain
      • Barcelona, Spain
        • Not yet recruiting
        • Hospital Universitari Vall d'Hebron
        • Contact:
        • Principal Investigator:
          • Jacques RIVIERE, Dr
      • Palma de Mallorca, Spain
        • Not yet recruiting
        • Hospital Universitario Son Espases
        • Contact:
        • Principal Investigator:
          • Jan RAMAKERS, Dr
  • Sweden
      • Stockholm, Sweden
        • Not yet recruiting
        • Karolinska University Hospital
        • Contact:
  • Turkey (Türkiye)
      • Ankara, Turkey (Türkiye)
  • United Kingdom
      • Leeds, United Kingdom
        • Not yet recruiting
        • Leeds Teaching Hospitals NHS Trust
        • Contact:
        • Principal Investigator:
          • Jade-Lauren BELTON, Dr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with genetically confirmed type I interferonopathy in Europe. 500 patients estimated.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Patients
Patients with genetically confirmed type I interferonopathy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Characterizing disease progression in pediatric and adult patients with type I interferonopathies
Time Frame: 2025-2045
Composite description of phenotypes of patients with type I interferonopathies according to genotype (clinical, biological) over time.
2025-2045

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identifing and characterising genotype-specific immunological factors
Time Frame: 2025-2045
Description of specific immunological factors according to genotype
2025-2045
Research of biomarkers for diagnosis, prognosis and monitoring of disease activity
Time Frame: 2025-2045
Biomarkers identified for diagnosis, prognosis and monitoring of disease activity
2025-2045
Monitoring of treatment response according to phenotype and genotype
Time Frame: 2025-2045
Treatment response by phenotype and genotype
2025-2045

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Imagine Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2025

Primary Completion (Estimated)

October 1, 2045

Study Completion (Estimated)

October 1, 2045

Study Registration Dates

First Submitted

June 12, 2025

First Submitted That Met QC Criteria

June 26, 2025

First Posted (Actual)

June 27, 2025

Study Record Updates

Last Update Posted (Actual)

May 13, 2026

Last Update Submitted That Met QC Criteria

May 12, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HJ-24-EU-IFNp

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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