SLE (Systemic Lupus)NCT04645225
Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onest Systemic Lupus Erythematosus
An observational study of SLE (Systemic Lupus), run by Assiut University.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- SLE (Systemic Lupus)
- What is being tested?
- . MEFV genetic testing
- Type of treatment
- Medical device
- How many people
- 60 participants
- Where
- No sites listed yet
- Study dates
- 1 Jan 2021to 1 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- 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
Who cannot join
- 1- 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
Trial locations and contacts
No sites are listed yet.
About this study
Official title: Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onset- Systemic Lupus Erythematosus
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
Read the 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 system(CNS) involvement at the time of diagnosis.(1) It is slightly more common in girls, with a sex ratio about 4:3 before puberty; however after puberty, the sex difference increases to about 4:1.(2) The disease is more common in Native Americans,African Americans, and Asians. (3) Prevalence rate of jSLE have varied from 4-250 per 100,000 population.(4,5) JSLE is not rare in Egypt and Africa, representing an important subset that is commonly overlooked and requires special attention. (6,7) SLE ranges from an insidious, slowly progressive, chronic disease with exacerbations and remissions,to an acute and rapidly fatal disease. Constitutiona lfeatures such as fever, fatigue, anorexia, myalgia,weight loss are common both at onset and during exacerbations of the disease. (8,9) 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 patients.(10) 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 Armenia.(11,12) 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 disorders.(13,14) 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 Behcet's Disease (BD), (15)Also the MEFV variants in exon 10 were suggested to affect the clinical presentation of Henoch-Schönleinpurpurain populations where FMF is common. (16) The mutation p.M694V/I in MEFV gene might be a risk factor for systemic onset juvenile idiopathic arthritis sJIA, (17)and M694V is accepted to be associated with more severe inflammation as compared to other mutations in patients with Polyarteritis nodosa.
- Conditions
- SLE (Systemic Lupus)
- Being tested
- . MEFV genetic testing
- Medical subject headings
- Lupus Erythematosus, Systemic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
. MEFV genetic testingDevice
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Nov 2020
- Study start1 Jan 2021 (estimated)
- Primary completion1 Jan 2022 (estimated)
- Study completion1 Mar 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for SLE (Systemic Lupus)Studies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Shrouk Ahmed Mostsfa Sayed, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04645225
- Sponsor's protocol ID
- MEFV gene in jSLE
- Status last verified
- Nov 2020
- First submitted
- 20 Nov 2020
- Last updated
- 27 Nov 2020
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 18413413Serdula 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.
PubMed 426879
Study at a glance
From the registry record, last updated by the sponsor on 27 Nov 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Characteristic and MEFV Gene Mutations in Patient With Juvenile Onset- Systemic Lupus Erythematosus
- ClinicalTrials.gov ID
- NCT04645225
- Acronym / sponsor ID
- MEFV gene in jSLE
- Conditions
- SLE (Systemic Lupus)
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 1 Jan 2021 (estimated)
- Primary completion
- 1 Jan 2022 (estimated)
- Study completion
- 1 Mar 2022 (estimated)
- First posted
- 27 Nov 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 system(CNS) involvement at the time of diagnosis.(1) It is slightly more common in girls, with a sex ratio about 4:3 before puberty; however after puberty, the sex difference increases to about 4:1.(2) The disease is more common in Native Americans,African Americans, and Asians. (3) Prevalence rate of jSLE have varied from 4-250 per 100,000 population.(4,5) JSLE is not rare in Egypt and Africa, representing an important subset that is commonly overlooked and requires special attention. (6,7) SLE ranges from an insidious, slowly progressive, chronic disease with exacerbations and remissions,to an acute and rapidly fatal disease. Constitutiona lfeatures such as fever, fatigue, anorexia, myalgia,weight loss are common both at onset and during exacerbations of the disease. (8,9) 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 patients.(10) 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 Armenia.(11,12) 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 disorders.(13,14) 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 Behcet's Disease (BD), (15)Also the MEFV variants in exon 10 were suggested to affect the clinical presentation of Henoch-Schönleinpurpurain populations where FMF is common. (16) The mutation p.M694V/I in MEFV gene might be a risk factor for systemic onset juvenile idiopathic arthritis sJIA, (17)and M694V is accepted to be associated with more severe inflammation as compared to other mutations in patients with Polyarteritis nodosa.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- 1- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| . MEFV genetic testingFor 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. | Device | – |
Primary outcome
MEFV gene mutations in jSLE
Time frame: baseline
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Nov 2020.
- Background: PubMed 18413413Tucker 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.
- Background: PubMed 426879Serdula 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Questions about this trial
What is this clinical trial studying?
An observational study of SLE (Systemic Lupus), run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 27 Nov 2020. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Shrouk A Sayed, Resident (01157376393, mshts4@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
MEFV gene mutations in jSLE (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04645225, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Nov 2020.