Genetic DiseaseEU-IFNpNCT07040774
Natural History of Type 1 Interferonopathies: Insights From a European Cohort
An observational study of Genetic Disease and Immune Dysfunction, run by Imagine Institute at 32 sites in 11 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions
- How many people
- 500 participants
- Where
- 32 sitesin 11 countries
- Study dates
- 1 Oct 2025to Oct 2045
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with genetically confirmed type I interferonopathy in Europe. 500 patients estimated.
Who may be able to join
- Genetically confirmed patient with type I interferonopathy
- Patient affiliated to a social security scheme or beneficiary of such a scheme.
Who cannot join
- Opposition of the patient and/or parental authority if the patient is a minor, to participation in the study.
Trial locations and contacts
32 sites in 11 countries. Contact the study team or a site near you to ask about taking part.
32 sites in 11 countries
France21 sites, 21 recruiting
- Recruiting
CHU d'Angers
Angers, 49000
Coralie MALLEBRANCHE, Dr, coralie.mallebranche@chu-angers.fr
Coralie MALLEBRANCHE, Dr
- Recruiting
Hôpital de Mercy - CHR Metz Thionville
Ars-Laquenexy, 57530
Anne-Charlotte CULLIER, Dr, Anne-Charlotte.cullier@chr-metz-thionville.fr
Anne-Charlotte CULLIER, Dr
- Recruiting
CHU de Besançon
Besançon, 25030
Claire BALLOT-SCHMIT, Dr, cballotschmit@chu-besancon.fr
Claire BALLOT-SCHMIT, Dr
- Not yet recruiting
CHU de Bordeaux
Bordeaux
Pascal PILLET, Dr, pascal.pillet@chu-bordeaux.fr
Pascal PILLET, Dr
- Recruiting
CHU Morvan
Brest, 29200
Elise SACAZE, Dr, elise.sacaze@chu-brest.fr
Elise SACAZE, Dr
- Recruiting
Hôpital Femme Mère Enfant - HCL
Bron, 69500
Alexandre BELOT, Dr, alexandre.belot@chu-lyon.fr
Alexandre BELOT, Dr
- Not yet recruiting
CHU de Dijon
Dijon, 21231
Mondher CHOUCHANE, Dr, mondher.chouchane@chu-dijon.fr
Mondher CHOUCHANE, Dr
- Recruiting
Hôpitaux Nord Ouest Villefranche
Gleizé, 69400
Vanessa REMY PICCOLO, Dr, vremypiccolo@hno.fr
Vanessa REMY PICCOLO, Dr
- Not yet recruiting
Hôpital Bicêtre
Le Kremlin-Bicêtre, 94270
Kumaran DEIVA, Pr, kumaran.deiva@aphp.fr
Kumaran DEIVA, Pr
- Not yet recruiting
Hôpital Claude Huriez, CHU de Lille
Lille, 59000
Eric HACHULLA, Pr, 03 20 44 56 50, eric.hachulla@chu-lille.fr
Eric HACHULLA, Pr
- Recruiting
APHM Hôpitaux de Marseille
Marseille
Anne-Laure JURQUET, Dr, anne-laure.jurquet@ap-hm.fr
Anne-Laure JURQUET, Dr
- Recruiting
CHU de Montpellier
Montpellier, 34295
Aurélia CARBASSE, Dr, a-carbasse@chu-montpellier.fr
Aurélia a-carbasse@chu-montpellier.fr, Dr
- Recruiting
CHRU Nancy
Nancy
Anne MIRGUET, Dr, A.mirguet@chru-nancy.fr
Anne MIRGUET, Dr
- Recruiting
CHU de Nantes
Nantes, 44000
Elsa LORINO, Dr, elsa.lorino@chu-nantes.fr
Elsa LORINO, Dr
- Recruiting
CH Agen-Nérac
Nérac, 47600
Mélanie RORIZ, Dr, rorizm@ch-agen-nerac.fr
Mélanie RORIZ, Dr
- Recruiting
Hôpital de l'Archet
Nice, 06200
Julie BERNARDOR, Dr, bernardor.j@chu-nice.fr
Julie BERNARDOR, Dr
- Not yet recruiting
Hôpital Armand Trousseau
Paris, 75012
Isabelle MELKI, Dr, isabelle.melki@aphp.fr
Isabelle MELKI, Dr
- Not yet recruiting
Hôpital Bichat
Paris, 75018
Clémence DAVID, Dr, clemence.david3@aphp.fr
Clémence DAVID, Dr
- Not yet recruiting
Hôpital Robert Debré
Paris, 75019
Ulrich MEINZER, Dr, ulrich.meinzer@aphp.fr
Ulric MEINZER, Dr
- Recruiting
Hôpital Necker Enfants Malades
Paris, Île-de-France Region, 75015
Marie-Louise FREMOND, Pr, marie-louise.fremond@institutimagine.org
Marie-Louise FREMOND, Pr
- Recruiting
Hôpital des Enfants - CHU de Toulouse
Toulouse, 31300
Léa RODITIS, Dr, roditis.l@chu-toulouse.Fr
Léa RODITIS, Dr
Spain2 sites, 2 recruiting
- Not yet recruiting
Hospital Universitari Vall d'Hebron
Barcelona
Jacques RIVIERE, Dr, jacques.riviere@vallhebron.cat
Jacques RIVIERE, Dr
- Not yet recruiting
Hospital Universitario Son Espases
Palma de Mallorca
Jan RAMAKERS, Dr, jan.ramakers@ssib.es
Jan RAMAKERS, Dr
Austria1 site, 1 recruiting
- Not yet recruiting
Medical University Innsbruck
Innsbruck
Philipp GAUCKLER, Dr, philipp.gauckler@i-med.ac.at
Philipp GAUCKLER, Dr
Belgium1 site, 1 recruiting
- Not yet recruiting
Antwerp University Hospital
Antwerp
Benson OGUNJIMI, Dr, benson.ogunjimi@uantwerpen.be
Benson OGUNJIMI, Dr
Croatia1 site, 1 recruiting
- Not yet recruiting
Children's Hospital Zagreb
Zagreb
Alenka GAGRO, Dr
Alenka GAGRO, Dr
Czechia1 site, 1 recruiting
- Recruiting
Motol University Hospital
Prague
Markéta BLOOMFIELD, Dr, marketa.bloomfield@fnmotol.cz
Markéta BLOOMFIELD, Dr
Germany1 site, 1 recruiting
- Recruiting
University of Tübingen
Tübingen
Özlem SATIRER
Özlem SATIRER, Dr
Italy1 site, 1 recruiting
- Recruiting
Meyer Children's Hospital IRCCS
Florence
Lorenzo LODI, lorenzo.lodi@meyer.it
Lorenzo LODI, Dr
Sweden1 site, 1 recruiting
- Not yet recruiting
Karolinska University Hospital
Stockholm
Petter BRODIN, Dr, petter.brodin@ki.se
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Hacettepe İhsan Doğramacı Children's Hospital
Ankara
Seza Özen, Pr, sezaozen@hacettepe.edu.tr
United Kingdom1 site, 1 recruiting
- Not yet recruiting
Leeds Teaching Hospitals NHS Trust
Leeds
Jade-Lauren BELTON, Dr, jade-lauren.belton@nhs.net
Jade-Lauren BELTON, Dr
About this study
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.
Read more
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.
- Conditions
- Genetic Disease, Immune Dysfunction, Neurological Diseases or Conditions, Autoimmune Diseases
- Keywords
- Immune dysfuntion, Neurological disease, Autoimmune diseases, Genetics diseases, Interferon, Aicardi-Goutieres Syndrom
- Medical subject headings
- Genetic Diseases, Inborn, Immune System Diseases, Autoimmune Diseases, Nervous System Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Patients with genetically confirmed type I interferonopathy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterizing disease progression in pediatric and adult patients with type I interferonopathies
Composite description of phenotypes of patients with type I interferonopathies according to genotype (clinical, biological) over time.
Measured: 2025-2045
Secondary outcomes (3)
Identifing and characterising genotype-specific immunological factors
Description of specific immunological factors according to genotype
Measured: 2025-2045
Research of biomarkers for diagnosis, prognosis and monitoring of disease activity
Biomarkers identified for diagnosis, prognosis and monitoring of disease activity
Measured: 2025-2045
Monitoring of treatment response according to phenotype and genotype
Treatment response by phenotype and genotype
Measured: 2025-2045
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jun 2025
- Study start1 Oct 2025
- Primary completionOct 2045 (estimated)
- Study completionOct 2045 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07040774
- Sponsor's protocol ID
- HJ-24-EU-IFNp
- Acronym
- EU-IFNp
- Status last verified
- Sep 2026
- First submitted
- 12 Jun 2025
- Last updated
- 10 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No