Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus

NCT04645225 | Unknown

• 1 other identifier: MEFV gene in jSLE
• Study Type: observational
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

Aim and objectives of this study

• To summarize the main clinical characteristics of patients with jSLE admitted and followed up in Assiut University children's Hospital.
• To compare the MEFV gene mutations in patients with jSLE versus a control group of healthy children in upper-Egypt a country with a considerably high carrier rate for the MEFV gene variants.
• To assess the prevalence and clinical significance of jSLE patients carrying MEFV variants and assess the impact of MEFV gene mutation on disease severity as assessed by systemic lupus erythematous disease activity index (SLEDAI).
• To assess if there is a specific MEFV gene mutations that are more associated with jSLE and/or certain disease manifestations, such as serositis

Conditions

SLE (Systemic Lupus)

Outcome Measures

Primary Outcomes (1)

• MEFV gene mutations in jSLE

  compare the MEFV gene mutations in patients with jSLE versus a control group of healthy childrenin upper-Egypt a country with a considerably high carrier rate for the MEFV gene variants

  baseline

Interventions

. MEFV genetic testing DEVICE

For mutation analysis, 2 ml blood will be with drawn from both patient and control groups in order to obtain genomic DNA. Extraction of DNA molecule from peripheral blood lymphocytes will be done using standard procedures, then amplification of MEFV gene will be done by polymerase chain reaction(PCR). Reversed hybridization technique will be used for identification of MEFV gene mutation.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Sixty patients diagnosed and followed up as jSLE will be consecutively recruited from the inpatient and outpatient clinic of Immunology and rheumatology department at Assuit University children's hospital. A control group of 40 age and sex matched control will be recruited from the surgery outpatient clinic or relatives of the patients. The study will be conducted during from Jan 2021 to Jan 2022.

You may qualify if:

• Age at enrollment ≤18 years old but they should be diagnosed as jSLE before the age of 16 years old.
• Both sexes
• The Patients should be diagnosed as jSLE according to 2019 European league against rheumatism (EULAR)/ American college of rheumatology (ACR) SLE classification criteria, (20) or previous ACR 1997 SLE classification criteria.
• No suggestive symptoms of FMF as stated by Tel Hashomer criteria

You may not qualify if:

• Patients diagnosed as FMF or receiving colchicine for possibility of FMF. 2- Patients with other autoimmune disease. 3- Patients not fulfilling the criteria for diagnosis of SLE

Sponsors & Collaborators

• Assiut University: lead

Related Publications (2)

• Tucker LB, Uribe AG, Fernandez M, Vila LM, McGwin G, Apte M, Fessler BJ, Bastian HM, Reveille JD, Alarcon GS. Adolescent onset of lupus results in more aggressive disease and worse outcomes: results of a nested matched case-control study within LUMINA, a multiethnic US cohort (LUMINA LVII). Lupus. 2008 Apr;17(4):314-22. doi: 10.1177/0961203307087875.

  PMID: 18413413 BACKGROUND

• Serdula MK, Rhoads GG. Frequency of systemic lupus erythematosus in different ethnic groups in Hawaii. Arthritis Rheum. 1979 Apr;22(4):328-33. doi: 10.1002/art.1780220403.

  PMID: 426879 BACKGROUND

MeSH Terms

Conditions

Lupus Erythematosus, Systemic

Condition Hierarchy (Ancestors)

Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Central Study Contacts

Shrouk A Sayed, Resident

CONTACT

01157376393; mshts4@gmail.com

Gamal A Askar, professor

CONTACT

01111686162; gamal.asker@med.au.edu.eg

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident pediatric

Study Record Dates

• First Submitted: November 20, 2020
• First Posted: November 27, 2020
• Study Start: January 1, 2021
• Primary Completion: January 1, 2022
• Study Completion: March 1, 2022
• Last Updated: November 27, 2020

Record last verified: 2020-11