NCT06586710

Interferon Pathway Activation in Monogenic and Nonmonogenic Forms of Pediatric SLE

Interferon Pathway Activation in Monogenic and Non-monogenic Forms of Pediatric SLE With Renal Involvement. Multicenter Observational Study of Biological Samples.

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 60 (estimated)
• Sponsor: Meyer Children's Hospital IRCCS · Academic / Other
• Sex: All
• Age: 1 Month – 17 Years
• Healthy volunteers: Not accepted

Summary

Pediatric SLE includes monogenic forms, some of which involve the interferon type I (IFN-I) pathway. The IFN-I pathway is renally active in adult SLE and correlates with the extent of renal damage. In pediatric SLE, and particularly in lupus nephritis, activation of the IFN-I pathway has never been studied, nor is it known whether monogenic forms underlie more pronounced interferon activation.

Detailed description

Pediatric systemic lupus erythematosus (SLE) (cSLE), compared with adult SLE, is characterized by a more severe phenotype, with more marked hematologic, neuropsychiatric, and renal changes. Lupus nephritis is a pivotal manifestation of pediatric SLE and an important prognostic factor. It is hypothesized that activation of the interferon pathway is more pronounced in monogenic forms, in which the response to IFN-I represents the primary alteration and likely the main pathogenic mechanism. This finding may also be relevant in light of the availability of new drugs that selectively target the IFN-I pathway. Demonstration of IFN-I pathway activation could be used as a diagnostic algorithm in aggressive pediatric forms resistant to immunosuppressive therapy and represent a therapeutic target.

Conditions

• Systemic Lupus Erythematosus of Childhood

Interventions

Type	Name	Description
OTHER	Assessment activation of interferon pathway	* Peripheral blood collection (as part of routine blood draws) on which interferon signature will be performed at the time of enrollment and in case of remission and/or any renal flare. * Renal biopsies (routinely performed for diagnostic purposes and during clinical follow-up) on which Myxovirus resistance protein 1 (MXA) expression and histopathologic characterization will be assessed. * Collection of clinical and laboratory data from routine visits performed at baseline and 3, 6, 12, and 24 months (or last available visit) after the renal biopsy was performed.

Timeline

• Start date: 2023-06-07
• Primary completion: 2025-06-30
• Completion: 2025-12-31
• First posted: 2024-09-19
• Last updated: 2024-09-19

Locations

3 sites across 1 country: Italy