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Monogenic Lupus in Childhood Onset Systemic Lupus Erythematosus

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ClinicalTrials.gov Identifier: NCT04532541
Recruitment Status : Recruiting
First Posted : August 31, 2020
Last Update Posted : February 16, 2022
Sponsor:
Information provided by (Responsible Party):
Children's Hospital of Fudan University

Tracking Information
First Submitted Date August 26, 2020
First Posted Date August 31, 2020
Last Update Posted Date February 16, 2022
Actual Study Start Date November 25, 2020
Estimated Primary Completion Date September 30, 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 28, 2020)
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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Monogenic Lupus in Childhood Onset Systemic Lupus Erythematosus
Official Title Screening for Monogenic Lupus in Patients With Childhood Onset Systemic Lupus Erythematosus
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
EDTA anticoagulated peripheral blood is obtained from patients with childhood onset SLE and their biological parents. Samples are performed after parents' information and consent.
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.
Condition
  • Monogenic Lupus
  • Systemic Lupus Erythematosus
Intervention 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.
Study Groups/Cohorts 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.
Intervention: Other: Monogenic lupus screening
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: August 28, 2020)
200
Original Estimated Enrollment Same as current
Estimated Study Completion Date September 30, 2025
Estimated Primary Completion Date September 30, 2025   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages up to 18 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts
Contact: YINV GONG +8615921439339 gongyinv@163.com
Contact: Li SUN, PI 86-21-64932829 lillysun@263.net
Listed Location Countries China
Removed Location Countries  
 
Administrative Information
NCT Number NCT04532541
Other Study ID Numbers Sunli-1
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Children's Hospital of Fudan University
Original Responsible Party Same as current
Current Study Sponsor Children's Hospital of Fudan University
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators Not Provided
PRS Account Children's Hospital of Fudan University
Verification Date February 2022