Interferon Pathway Activation in Monogenic and Nonmonogenic Forms of Pediatric SLE

NCT06586710 | Recruiting

• 1 other identifier: NEFRO-LES
• Study Type: interventional
• Target: 60
• Locations: 1 country
• Sites: 3

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.

Conditions

Systemic Lupus Erythematosus of Childhood

Outcome Measures

Primary Outcomes (3)

• Difference between monogenic and non-monogenic forms of cSLE

  Quantification of the IFN-I target genes distinguishing between monogenic and non-monogenic forms.

  At the enrollment, in case of renal flare, in case of disease remission

• Evaluation of expression of MXA protein in renal biopsy

  Evaluation of expression of MXA protein in renal biopsy (by fluorescence microscopy), distinguishing between genetic and non-genetic forms

  Biopsy available at enrollment

• Evaluation of the proportions of the various WHO histological classes of renal biopsy

  Evaluation of the proportions of the various WHO histological classes of renal biopsy in patients with monogenic and non-monogenic lupus nephritis. Histological diagnosis at renal biopsy: WHO histological pattern, activity index, chronicity index, renal TMA

  At the end of the study (24 months after enrollment)

Secondary Outcomes (2)

• Phenotype characterization of cSLE

  At the onset of the disease, 3, 6, 12, 24 months from the kidney biopsy,

• Correlation between the clinical phenotype, response to treatment and amplification of the interferon pathway

  At the onset of the disease, 3, 6, 12, 24 months from the kidney biopsy,

Study Arms (1)

Activation of interferon pathway

OTHER

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

Other: Assessment activation of interferon pathway

Interventions

Assessment activation of interferon pathway 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.

Activation of interferon pathway

Eligibility Criteria

• Age: 1 Month - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Meyer Children's Hospital IRCCS: lead

Study Sites (3)

Meyer Children's Hospital IRCCS

Florence, Italy

RECRUITING

IRCCS Gianna Gaslini

Genova, Italy

RECRUITING

IRCCS Humanitas Research Hospital

Rozzano, Italy

RECRUITING

Study Officials

• Carmela Errichiello

  Meyer Children's Hospital IRCCS, Florence, Italy

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Carmela Errichiello, MD

CONTACT

055/5662563; carmela.errichiello@meyer.it

Carmela Errichiello, MD

CONTACT

055/5662563

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 20, 2024
• First Posted: September 19, 2024
• Study Start: June 7, 2023
• Primary Completion: June 30, 2025
• Study Completion: December 31, 2025
• Last Updated: September 19, 2024

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will not share

Locations

IT (3)