Interferon Pathway Activation in Monogenic and Nonmonogenic Forms of Pediatric SLE

Meyer Children's Hospital IRCCS

Status

Enrolling

Conditions

Systemic Lupus Erythematosus of Childhood

Treatments

Other: Assessment activation of interferon pathway

Study type

Interventional

Funder types

Other

Identifiers

NCT06586710

NEFRO-LES

Details and patient eligibility

About

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.

Full 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.

Enrollment

60 estimated patients

Sex

All

Ages

1 month to 17 years old

Volunteers

No Healthy Volunteers

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.