Investigation of Type I Interferon Excess in Patients With Systemic Autoimmune Diseases and Genetic Type I Interferonopathies
SAFRAN
Type I Interferon Excess in Autoimmune Diseases and Genetic Type I Interferonopathies
1 other identifier
interventional
120
1 country
3
Brief Summary
Systemic autoimmune diseases associated with type I interferon (IFN-I) dysregulation, such as systemic lupus erythematosus, systemic sclerosis, myositis, and mixed or undifferentiated connective tissue diseases, and genetic type 1 interferonopathies are characterized by chronic and excession IFN-I signaling and production contributing to disease pathogenesis. Aberrant IFN-I production can be triggered through the activation of multiple signaling pathways, particularly those involving intracellular and extracellular RNA and DNA sensing receptors. We hypothesize that excessive IFN-I production results from an increased tonic activation state of nucleic acid sensors and/or an enhanced responsiveness of these sensors to endogenous nucleic acids, thereby sustaining pathological IFN-I signaling and chronic inflammation. The aim of this study is to characterize the type I interferon (IFN-I) response, defined by both the IFN-I gene signature and plasma IFN-α levels, following stimulation with a panel of ligands specific for DNA- and RNA-sensing pathways.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for not_applicable
Started Dec 2026
Longer than P75 for not_applicable
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
September 10, 2026
CompletedFirst Posted
Study publicly available on registry
September 24, 2026
CompletedStudy Start
First participant enrolled
December 1, 2026
ExpectedPrimary Completion
Last participant's last visit for primary outcome
January 1, 2033
Study Completion
Last participant's last visit for all outcomes
January 1, 2033
September 24, 2026
September 1, 2026
6.1 years
September 10, 2026
September 18, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
IFN-I signature score
The interferon signature assessed by transcriptomic analysis and IFN-α concentrations measured using the Simoa assay will be compared across the different disease groups and with healthy volunteers.
Day 1 and Month 12 (if applicable)
Secondary Outcomes (2)
Clinical phenotype
Day 1 and Month 12 (if applicable)
plasma IFN-α concentration
Day 1 and Month 12 (if applicable)
Study Arms (2)
Patients
OTHERPatients with systemic lupus erythematosus, systemic sclerosis, myositis, and mixed or undifferentiated connective tissue diseases, and genetic type 1 interferonopathies
control
OTHERHealthy volunteer
Interventions
Healthy volunteers will undergo a blood draw of a total volume of 20 mL for the following analyses: ex vivo analysis of the interferon signaling pathway (12 mL) and biological sample collection, if the patient/holder of parental authority provides consent (8 mL).
Eligibility Criteria
You may qualify if:
- Patient
- Patient followed at the Hospices Civils de Lyon (HCL) for their disease.
- Patient aged over 6 years and under 60 years.
- Body weight ≥ 25 kg.
- Patient with a confirmed diagnosis of
- Systemic lupus erythematosus
- Myositis, histologically confirmed or not
- Systemic sclerosis,
- Mixed connective tissue disease, according to the Sharp or Kasukawa criteria Undifferentiated connective tissue disease, according to the criteria proposed by Mosca et al.
- Genetically confirmed monogenic lupus or monogenic interferonopathy.
- Patient, parents, or legal guardians informed about the study and having signed the informed consent form.
- Healthy Volunteer Participants
- Subjects aged over 6 years and under 60 years.
- Body weight greater than or equal to 25 kg.
- Participants, parents, or legal guardians who have been informed about the study and have provided written informed consent.
You may not qualify if:
- Patient
- documented infection or symptoms consistent with a bacterial or viral infection within 2 weeks prior to sampling
- Subjects currently participating in an interventional drug study
- Vaccination within 1 month prior to sampling
- Pregnant, parturient, or breastfeeding women
- Individuals deprived of liberty by judicial or administrative decision
- Individuals receiving psychiatric care
- Individuals admitted to a healthcare or social care institution for reasons other than participation in the research
- Adults subject to a legal protection measure
- Individuals not affiliated with a social security scheme or not covered by an equivalent health insurance system
- Healthy Volunteer Participants
- Documented infection or symptoms consistent with a bacterial or viral infection occurring within 2 weeks prior to sample collection.
- Participant with a long-term chronic disease (ALD) or any chronic medical condition.
- Participant with a primary immunodeficiency.
- Vaccination within 1 month prior to sample collection.
- +7 more criteria
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
Hôpital Femme-Mère-Enfant
Bron, 69500, France
Hôpital Edouard Herriot
Lyon, 69003, France
Centre Hospitalier Lyon-Sud
Oullins, 69495, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- BASIC SCIENCE
- Intervention Model
- PARALLEL
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 10, 2026
First Posted
September 24, 2026
Study Start (Estimated)
December 1, 2026
Primary Completion (Estimated)
January 1, 2033
Study Completion (Estimated)
January 1, 2033
Last Updated
September 24, 2026
Record last verified: 2026-09
Data Sharing
- IPD Sharing
- Will not share