Monogenic Lupus in Childhood Onset Systemic Lupus Erythematosus

Screening for Monogenic Lupus in Patients With Childhood Onset Systemic Lupus Erythematosus

The purpose of this study is to unravel the proportion of monogenic lupus in children onset Systemic lupus erythematosus (SLE), and to find out the diagnostic strategy for early detection of monogenic lupus.

Study Overview

• Status: Recruiting
• Conditions: Systemic Lupus Erythematosus; Monogenic Lupus
• Intervention / Treatment: Other: Monogenic lupus screening

Detailed Description

Childhood Systemic Lupus Erythematosus (SLE) is a common autoimmune disease in children, with a high incidence in Asia. Compared with adult SLE, childhood SLE is more likely to involve multiple systems, the treatment is more difficult, and mortality is relatively high. With the improvement of diagnosis and treatment of SLE, the prognosis of children with SLE continues to improve, but there are still a small number of patients who are ineffective to existing treatments. The pathogenesis of SLE is complicated, and more and more evidences confirm that genetic factors are involved in the pathogenesis of SLE. In recent years, the concept of "Monogenic Lupus" has been proposed internationally, and more than 30 single gene variants have been found to be related to the onset of SLE. Such patients are clinically in line with typical SLE or lupus-like syndrome, with common characteristics of a very young age of onset (mostly in infants and young children), and/or a family history of rheumatic immune diseases. It is a huge difficulty to early identify these patients at present, and it has not been generally accepted in the field of rheumatology in China.

In this research, about 200 patients with childhood onset SLE that meet the criteria for inclusion and exclusion were tested for gene analysis, and clinical data were collected and entered into the SLE cohort database. The incidence of monogenic lupus in childhood onset SLE will be unraveled. Based on clinical key words, such as early onset, male, family history of rheumatic diseases, blood system involvement, kidney involvement, the incidence of monogenic lupus in these single or multiple keyword combination will be calculated and compared to obtain an early, cost-effective diagnosis strategy for monogenic lupus.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: YINV GONG; Phone Number: +8615921439339; Email: gongyinv@163.com
• Study Contact Backup: Name: Li SUN, PI; Phone Number: 86-21-64932829; Email: lillysun@263.net

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 201102
      • Recruiting
      • Children's Hospital of Fudan University
      • Contact: Li Sun; Phone Number: 86-21-64932829; Email: lillysun@263.net

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Participants in this group were derived from patients diagnosed with SLE at an age of less than 18 years old, and these patients were hospitalized in our center.

Description

Inclusion Criteria:

Subjects who meet the following criteria will be allowed to participate in the study:

1. onset age: birth to 18 years;
2. meet the diagnostic criteria of SLE according to ACR(1997), or SLICC(2012), or EULAR/ACR (2019);
3. obtain parental consent.

Exclusion Criteria:

1. Lack of clinical data;
2. Unable to finish the follow-up.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with childhood onset SLE; Participants in this group were derived from patients diagnosed with SLE at an age of less than 18 years old, and these patients were hospitalized in our center. Peripheral blood was collected from the patient and their biological parents for gene analysis to obtain the overall incidence of monogenic lupus in the cohort.	Other: Monogenic lupus screening; This is an observational study, and there is no intervention. This study intends to obtain the incidence of monogenic lupus in childhood onset SLE through gene test and bioinformatic analysis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Incidence of Monogenic lupus in childhood onset SLE	The concept of "Monogenic Lupus" has been proposed internationally, diagnosed by gene test among patients with typical SLE or lupus-like syndrome, and more than 30 single gene variants have been currently found to be related to the onset of SLE. This study intends to detect monogenic lupus in patients with childhood-onset SLE through gene test and bioinformatic analysis.	Gene test will be conducted at the time of enrollment.

Collaborators and Investigators

• Sponsor: Children's Hospital of Fudan University

Study record dates

Study Major Dates

• Study Start (Actual): November 25, 2020
• Primary Completion (Estimated): September 30, 2025
• Study Completion (Estimated): September 30, 2025

Study Registration Dates

• First Submitted: August 26, 2020
• First Submitted That Met QC Criteria: August 28, 2020
• First Posted (Actual): August 31, 2020

Study Record Updates

• Last Update Posted (Actual): March 8, 2024
• Last Update Submitted That Met QC Criteria: March 6, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Autoimmune Diseases; Connective Tissue Diseases; Lupus Erythematosus, Systemic
• Other Study ID Numbers: Sunli-1

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No