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Investigation of Type I Interferon Excess in Patients With Systemic Autoimmune Diseases and Genetic Type I Interferonopathies
Sponsor: Hospices Civils de Lyon
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.
Official title: Type I Interferon Excess in Autoimmune Diseases and Genetic Type I Interferonopathies
Key Details
Gender
All
Age Range
6 Years - 60 Years
Study Type
INTERVENTIONAL
Enrollment
120
Start Date
2026-12-01
Completion Date
2033-01-01
Last Updated
2026-09-24
Healthy Volunteers
Yes
Conditions
Interventions
biological samples
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).
Locations (3)
Hôpital Femme-Mère-Enfant
Bron, France
Hôpital Edouard Herriot
Lyon, France
Centre Hospitalier Lyon-Sud
Oullins, France