Monogenic Lupus in Childhood Onset Systemic Lupus Erythematosus

• ClinicalTrials.gov Identifier: NCT04532541
• Recruitment Status: Recruiting
• First Posted: August 31, 2020
• Last Update Posted: March 1, 2023
• Sponsor: Children's Hospital of Fudan University
• Information provided by (Responsible Party): Children's Hospital of Fudan University

Study Description

Brief Summary:

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.

Condition or disease	Intervention/treatment
Monogenic Lupus; Systemic Lupus Erythematosus	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 Design

• Study Type: Observational
• Estimated Enrollment: 200 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Screening for Monogenic Lupus in Patients With Childhood Onset Systemic Lupus Erythematosus
• Actual Study Start Date: November 25, 2020
• Estimated Primary Completion Date: September 30, 2025
• Estimated Study Completion Date: September 30, 2025

Groups and Cohorts

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.

Outcome Measures

Primary Outcome Measures :

1. Incidence of Monogenic lupus in childhood onset SLE [ Time Frame: Gene test will be conducted at the time of enrollment. ]
   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.

Biospecimen Retention:   Samples With DNA

EDTA anticoagulated peripheral blood is obtained from patients with childhood onset SLE and their biological parents. Samples are performed after parents' information and consent.

Eligibility Criteria

• Ages Eligible for Study: up to 18 Years (Child, Adult)
• Sexes Eligible for Study: All
• 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.

Criteria

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.

Contacts and Locations

Contacts

Contact: YINV GONG; +8615921439339; gongyinv@163.com

Contact: Li SUN, PI; 86-21-64932829; lillysun@263.net

Locations

China, Shanghai

Children's Hospital of Fudan University; Recruiting

Shanghai, Shanghai, China, 201102

Contact: Li Sun 86-21-64932829 lillysun@263.net

Sponsors and Collaborators

Children's Hospital of Fudan University

More Information

• Responsible Party: Children's Hospital of Fudan University
• ClinicalTrials.gov Identifier: NCT04532541
• Other Study ID Numbers: Sunli-1
• First Posted: August 31, 2020
• Last Update Posted: March 1, 2023
• Last Verified: February 2023

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: No

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:

Lupus Erythematosus, Systemic; Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases