Interferon Pathway Activation in Monogenic and Nonmonogenic Forms of Pediatric SLE

NCT ID: NCT06586710

Last Updated: 2024-09-19

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 60 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2023-06-07
• Study Completion Date: 2025-12-31

Brief 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

Activation of interferon pathway

Assessment activation of interferon pathway on biological samples (blood and kidney biopsy) in cSLE patients

Group Type: OTHER

Assessment activation of interferon pathway

Intervention Type: OTHER

• 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.

Interventions

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Diagnosis of SLE arising before the age of majority (until the age of 18 years) according to SLICC and/or EULAR criteria 2019;
• Clinical, laboratory and/or histologic evidence of renal involvement manifested before the age of 18 years;
• Signature of informed consent.

Exclusion Criteria

• Onset of renal disease after the age of 18 years;
• SLE secondary to drugs or associated with other diseases such as systemic sclerosis, rheumatoid arthritis, Sjögren's syndrome, and other connectivities.

• Minimum Eligible Age: 1 Month
• Maximum Eligible Age: 17 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Meyer Children's Hospital IRCCS

OTHER

Sponsor Role: lead

Responsible Party

Carmela Errichiello

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Carmela Errichiello

Role: PRINCIPAL_INVESTIGATOR

Meyer Children's Hospital IRCCS, Florence, Italy

Locations

Meyer Children's Hospital IRCCS

Florence, , Italy

Site Status: RECRUITING

IRCCS Gianna Gaslini

Genova, , Italy

Site Status: RECRUITING

IRCCS Humanitas Research Hospital

Rozzano, , Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Carmela Errichiello, MD

Role: CONTACT

carmela.errichiello@meyer.it

055/5662563

Carmela Errichiello, MD

Role: CONTACT

055/5662563

Facility Contacts

Carmela Errichiello, MD

Role: primary

Andrea Angeletti

Role: primary

Gabriella Moroni

Role: primary

Other Identifiers

NEFRO-LES

Identifier Type: -

Identifier Source: org_study_id