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

NCT ID: NCT07040774

Last Updated: 2026-02-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-01

Study Completion Date

2045-10-31

Brief Summary

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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.

Detailed Description

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Conditions

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Genetic Disease Immune Dysfunction Neurological Diseases or Conditions Autoimmune Diseases

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Patients

Patients with genetically confirmed type I interferonopathy

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Imagine Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Medical University Innsbruck

Innsbruck, , Austria

Site Status NOT_YET_RECRUITING

Antwerp University Hospital

Antwerp, , Belgium

Site Status NOT_YET_RECRUITING

Children's Hospital Zagreb

Zagreb, , Croatia

Site Status NOT_YET_RECRUITING

Motol University Hospital

Prague, , Czechia

Site Status NOT_YET_RECRUITING

CHU d'Angers

Angers, , France

Site Status RECRUITING

Hôpital de Mercy - CHR Metz Thionville

Ars-Laquenexy, , France

Site Status NOT_YET_RECRUITING

CHU de Besançon

Besançon, , France

Site Status RECRUITING

CHU de Bordeaux

Bordeaux, , France

Site Status NOT_YET_RECRUITING

CHU Morvan

Brest, , France

Site Status RECRUITING

Hôpital Femme Mère Enfant - HCL

Bron, , France

Site Status RECRUITING

CHU de Dijon

Dijon, , France

Site Status NOT_YET_RECRUITING

Hôpitaux Nord Ouest Villefranche

Gleizé, , France

Site Status RECRUITING

Hôpital Bicêtre

Le Kremlin-Bicêtre, , France

Site Status NOT_YET_RECRUITING

Hôpital Claude Huriez, CHU de Lille

Lille, , France

Site Status NOT_YET_RECRUITING

APHM Hôpitaux de Marseille

Marseille, , France

Site Status NOT_YET_RECRUITING

CHU de Montpellier

Montpellier, , France

Site Status RECRUITING

CHRU Nancy

Nancy, , France

Site Status NOT_YET_RECRUITING

CHU de Nantes

Nantes, , France

Site Status NOT_YET_RECRUITING

CH Agen-Nérac

Nérac, , France

Site Status RECRUITING

Hôpital de l'Archet

Nice, , France

Site Status NOT_YET_RECRUITING

Hôpital Armand Trousseau

Paris, , France

Site Status NOT_YET_RECRUITING

Hôpital Bichat

Paris, , France

Site Status NOT_YET_RECRUITING

Hôpital Robert Debré

Paris, , France

Site Status NOT_YET_RECRUITING

Hôpital des Enfants - CHU de Toulouse

Toulouse, , France

Site Status NOT_YET_RECRUITING

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, France

Site Status RECRUITING

University of Tübingen

Tübingen, , Germany

Site Status NOT_YET_RECRUITING

Meyer Children's Hospital IRCCS

Florence, , Italy

Site Status NOT_YET_RECRUITING

Hospital Universitari Vall d'Hebron

Barcelona, , Spain

Site Status NOT_YET_RECRUITING

Hospital Universitario Son Espases

Palma de Mallorca, , Spain

Site Status NOT_YET_RECRUITING

Karolinska University Hospital

Stockholm, , Sweden

Site Status NOT_YET_RECRUITING

Hacettepe İhsan Doğramacı Children's Hospital

Ankara, , Turkey (Türkiye)

Site Status RECRUITING

Leeds Teaching Hospitals NHS Trust

Leeds, , United Kingdom

Site Status NOT_YET_RECRUITING

Countries

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Austria Belgium Croatia Czechia France Germany Italy Spain Sweden Turkey (Türkiye) United Kingdom

Central Contacts

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Marie-Louise FREMOND, Pr

Role: CONTACT

01 44 49 48 24

Facility Contacts

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Philipp GAUCKLER, Dr

Role: primary

Benson OGUNJIMI, Dr

Role: primary

Alenka GAGRO, Dr

Role: primary

Markéta BLOOMFIELD, Dr

Role: primary

Coralie MALLEBRANCHE, Dr

Role: primary

Anne-Charlotte CULLIER, Dr

Role: primary

Claire BALLOT-SCHMIT, Dr

Role: primary

Pascal PILLET, Dr

Role: primary

Elise SACAZE, Dr

Role: primary

Alexandre BELOT, Dr

Role: primary

Mondher CHOUCHANE, Dr

Role: primary

Vanessa REMY PICCOLO, Dr

Role: primary

Kumaran DEIVA, Pr

Role: primary

Eric HACHULLA, Pr

Role: primary

03 20 44 56 50

Anne-Laure JURQUET, Dr

Role: primary

Aurélia CARBASSE, Dr

Role: primary

Anne MIRGUET, Dr

Role: primary

Elsa LORINO, Dr

Role: primary

Mélanie RORIZ, Dr

Role: primary

Julie BERNARDOR, Dr

Role: primary

Isabelle MELKI, Dr

Role: primary

Clémence DAVID, Dr

Role: primary

Ulrich MEINZER, Dr

Role: primary

Léa RODITIS, Dr

Role: primary

Marie-Louise FREMOND, Pr

Role: primary

Özlem SATIRER

Role: primary

Lorenzo LODI

Role: primary

Jacques RIVIERE, Dr

Role: primary

Jan RAMAKERS, Dr

Role: primary

Petter BRODIN, Dr

Role: primary

Seza Özen, Pr

Role: primary

Jade-Lauren BELTON, Dr

Role: primary

Other Identifiers

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HJ-24-EU-IFNp

Identifier Type: -

Identifier Source: org_study_id

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