Ignite Creation Date:
2024-05-06 @ 3:28 PM
Last Modification Date:
2024-10-26 @ 1:50 PM
Study NCT ID:
NCT04645225
Status:
UNKNOWN
Last Update Posted:
2020-11-27
First Post:
2020-11-20
Brief Title:
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus
Sponsor:
Assiut University
Organization:
Assiut University
Study Overview
Official Title:
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onset- Systemic Lupus Erythematosus
Status:
UNKNOWN
Status Verified Date:
2020-11
Last Known Status:
NOT_YET_RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 childrens 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 andor certain disease manifestations such as serositis
To summarize the main clinical characteristics of patients with jSLE admitted and followed up in Assiut University childrens 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 andor certain disease manifestations such as serositis
Detailed Description:
Systemic lupus erythematosus SLE is a chronic autoimmune inflammatory disease characterized by the presence of multiple auto antibodies and is associated with a multisystemic illness The clinical presentation of SLE ranges from mild to severe and the course of the disease is unpredictable with periods of remission and flares 1 Juvenile-onset systemic lupus erythematosus jSLE patients present more frequently in teenage years and accounts for 15-20 of lupus population and they typically have severe disease course than adult patients A considerable number of jSLE patients have significant renal or central nervous systemCNS involvement at the time of diagnosis1 It is slightly more common in girls with a sex ratio about 43 before puberty however after puberty the sex difference increases to about 412 The disease is more common in Native AmericansAfrican Americans and Asians 3 Prevalence rate of jSLE have varied from 4-250 per 100000 population45 JSLE is not rare in Egypt and Africa representing an important subset that is commonly overlooked and requires special attention 67 SLE ranges from an insidious slowly progressive chronic disease with exacerbations and remissionsto an acute and rapidly fatal disease Constitutiona lfeatures such as fever fatigue anorexia myalgiaweight loss are common both at onset and during exacerbations of the disease 89 Familial Mediterranean fever FMF an autosomal recessively inherited autoinflammatory disorder is characterized by recurrent self-limited inflammatory attacks involving mainly serosal membranes The disease has been associated with variations in the MEFV gene which encodes the pyrin protein in the great majority of patients10 FMF is the most common autoinflammatory disorder and the rate of heterozygous carrier for MEFV gene variations is quite high in Eastern Mediterranean countries including Turkey Israel and Armenia1112 A higher acute phase response has been reported in asymptomatic heterozygous carriers and heterozygosity for MEFV variations has been suggested to affect the course of other autoinflammatory disorders1314 A connection between FMF and collagen diseases were suggested previously by multiple studies as that MEFV mutations M694V and M680I were observed to be associated with Behcets Disease BD 15Also the MEFV variants in exon 10 were suggested to affect the clinical presentation of Henoch-Schönleinpurpurain populations where FMF is common 16 The mutation pM694VI in MEFV gene might be a risk factor for systemic onset juvenile idiopathic arthritis sJIA 17and M694V is accepted to be associated with more severe inflammation as compared to other mutations in patients with Polyarteritis nodosa
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None