Familial Mediterranean FeverNCT07849998
Genotype and Phenotype in Pediatric Familial Mediterranean Fever
An observational study of Familial Mediterranean Fever, run by Assiut University.
Trial summary
This cross-sectional study aims to assess the spectrum of MEFV gene mutations and their relation to clinical manifestations and disease severity in children with Familial Mediterranean Fever attending Assiut University Children Hospital. Read more about this study
- Who is it for?
- Ages 1 month to 18 years
- Conditions the study is for
- Familial Mediterranean Fever
- How many people
- 84 participants
- Where
- No sites listed yet
- Study dates
- 26 Sep 2026to 20 Feb 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 1 month to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Pediatric patients with Familial Mediterranean Fever attending the Pediatric Allergy, Immunology and Rheumatology Unit at Assiut University Children Hospital.
Who may be able to join
- - Age less than 18 years
- Clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria
- Availability of molecular genetic testing for MEFV gene mutations
- Disease duration of at least 6 months
- Written informed consent from legal caregivers
Who cannot join
- - Other autoinflammatory diseases (CAPS, TRAPS, hyper-IgD syndrome)
- Autoimmune diseases (systemic lupus erythematosus, juvenile idiopathic arthritis)
- Incomplete genetic workup
- Pre-existing chronic kidney disease or amyloidosis attributable to a cause other than FMF
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Genotype-Phenotype Association in Pediatric Familial Mediterranean Fever Experienced From Assiut University Children Hospital
This cross-sectional study aims to assess the spectrum of MEFV gene mutations and their relation to clinical manifestations and disease severity in children with Familial Mediterranean Fever attending Assiut University Children Hospital.
Read the detailed description
Familial Mediterranean Fever is a common autoinflammatory disease in children of Mediterranean origin. This observational study will include pediatric patients with a clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria who have available MEFV genetic testing.
Clinical features, disease severity (ISSF score), and genetic variants will be recorded and analyzed in a single assessment.
- Conditions
- Familial Mediterranean Fever
- Keywords
- Familial Mediterranean Fever, MEFV gene, Genotype, Phenotype, Assiut
- Medical subject headings
- Familial Mediterranean Fever, Brucellosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Single cohort: Pediatric FMF Patients | Children with confirmed clinical diagnosis of Familial Mediterranean Fever who have available MEFV genetic results and will undergo clinical and severity assessment. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of MEFV gene mutations
Proportion of children with MEFV gene mutations among the studied pediatric FMF patients.
Measured: Baseline
Mean ISSF disease severity score
Mean International Severity Scoring System for Familial Mediterranean Fever (ISSF) score. The score ranges from 0 to 14, with higher scores indicating more severe disease.
Measured: Baseline
Secondary outcomes (8)
Mean age at symptom onset
Mean age at symptom onset of FMF in years..
Measured: Baseline
Mean age at diagnosis
Mean age at diagnosis of FMF in years.
Measured: Baseline
Frequency of fever attacks
Proportion of children presenting with recurrent fever attacks.
Measured: Baseline
Frequency of abdominal pain
Proportion of children presenting with abdominal pain during attacks.
Measured: Baseline
Frequency of arthritis or arthralgia
Proportion of children presenting with arthritis or arthralgia during attacks.
Measured: Baseline
Frequency of chest pain
Proportion of children presenting with chest pain during attacks
Measured: Baseline
Mean colchicine dose
Mean daily colchicine dose in milligrams.
Measured: Baseline
Proportion of patients with complete colchicine response
Proportion of patients showing complete response to colchicine therapy.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2026
- Study start26 Sep 2026 (estimated)
- Primary completion26 Sep 2027 (estimated)
- Study completion20 Feb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Mediterranean FeverStudies 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 only
- Time perspective
- Cross-sectional
- Enrolment
- 84 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Rana Ashraf Ahmed Hussein, Assiut University
- Investigators
- Maher M Ahmed, prof, Study chair, Pediatrics Department, Assiut University Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07849998
- Sponsor's protocol ID
- FMF-GenoPheno-Assiut-2026
- Status last verified
- Sep 2026
- First submitted
- 24 Sep 2026
- Last updated
- 5 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genotype-Phenotype Association in Pediatric Familial Mediterranean Fever Experienced From Assiut University Children Hospital
- ClinicalTrials.gov ID
- NCT07849998
- Acronym / sponsor ID
- FMF-GenoPheno-Assiut-2026
- Conditions
- Familial Mediterranean Fever
- Keywords
- Familial Mediterranean Fever, MEFV gene, Genotype, Phenotype, Assiut
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 84 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 26 Sep 2026 (estimated)
- Primary completion
- 26 Sep 2027 (estimated)
- Study completion
- 20 Feb 2028 (estimated)
- First posted
- 30 Sep 2026 (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.
This cross-sectional study aims to assess the spectrum of MEFV gene mutations and their relation to clinical manifestations and disease severity in children with Familial Mediterranean Fever attending Assiut University Children Hospital.
Detailed description
Familial Mediterranean Fever is a common autoinflammatory disease in children of Mediterranean origin. This observational study will include pediatric patients with a clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria who have available MEFV genetic testing.
Clinical features, disease severity (ISSF score), and genetic variants will be recorded and analyzed in a single assessment.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single cohort: Pediatric FMF Patients | – | –Children with confirmed clinical diagnosis of Familial Mediterranean Fever who have available MEFV genetic results and will undergo clinical and severity assessment. |
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Pediatric patients with Familial Mediterranean Fever attending the Pediatric Allergy, Immunology and Rheumatology Unit at Assiut University Children Hospital.
Key inclusion criteria (5 listed)
- - Age less than 18 years
- Clinical diagnosis of FMF according to Tel-Hashomer or Yalcinkaya-Ozen criteria
- Availability of molecular genetic testing for MEFV gene mutations
- Disease duration of at least 6 months
- Written informed consent from legal caregivers
Key exclusion criteria (4 listed)
- - Other autoinflammatory diseases (CAPS, TRAPS, hyper-IgD syndrome)
- Autoimmune diseases (systemic lupus erythematosus, juvenile idiopathic arthritis)
- Incomplete genetic workup
- Pre-existing chronic kidney disease or amyloidosis attributable to a cause other than FMF
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Frequency of MEFV gene mutations
Time frame: Baseline
Proportion of children with MEFV gene mutations among the studied pediatric FMF patients.
Mean ISSF disease severity score
Time frame: Baseline
Mean International Severity Scoring System for Familial Mediterranean Fever (ISSF) score. The score ranges from 0 to 14, with higher scores indicating more severe disease.
8 secondary outcomes
Mean age at symptom onset
Time frame: Baseline
Mean age at diagnosis
Time frame: Baseline
Frequency of fever attacks
Time frame: Baseline
Frequency of abdominal pain
Time frame: Baseline
Frequency of arthritis or arthralgia
Time frame: Baseline
Frequency of chest pain
Time frame: Baseline
Mean colchicine dose
Time frame: Baseline
Proportion of patients with complete colchicine response
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for Familial Mediterranean Fever
RecruitingObservational study
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
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Behçet's Disease, Juvenile Psoriatic Arthritis
Not yet recruitingPhase 3
Goflikicept for Resolution and Prevention of Attacks in Pediatric and Adolescent Patients With Colchicine-Resistant or Colchicine-Intolerant Familial Mediterranean Fever
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Serum EBI-3 Protein Levels in Behçet's Disease
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Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)
NOMID, DIRA
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.
Maher M Ahmed, prof study chair
Pediatrics Department, Assiut University Hospitals
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Mediterranean Fever, 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 5 inclusion and 4 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: opening soon, as of the sponsor's last update on 5 Oct 2026. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Rana A Ahmed, Resident (01011062546, Rana.18313220@med.aun.edu.eg), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of MEFV gene mutations (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 5 Oct 2026.