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Genotype and Phenotype in Pediatric Familial Mediterranean Fever

ConditionFamilial Mediterranean Fever
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-18
SponsorAssiut University

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

- 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

Disqualifiers

- 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 population

Pediatric patients with Familial Mediterranean Fever attending the Pediatric Allergy, Immunology and Rheumatology Unit at Assiut University Children Hospital.

Trial design

Design model

Case-only

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

84 Participants
are grouped into 1 trial group
Group A: Single cohort: Pediatric FMF Patients

Trial outcomes

Primary outcomes

1

Frequency of MEFV gene mutations

Proportion of children with MEFV gene mutations among the studied pediatric FMF patients.

Time frame
Baseline
2

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.

Time frame
Baseline

Secondary outcomes

1

Mean age at symptom onset

Mean age at symptom onset of FMF in years..

Time frame
Baseline
2

Mean age at diagnosis

Mean age at diagnosis of FMF in years.

Time frame
Baseline
3

Frequency of fever attacks

Proportion of children presenting with recurrent fever attacks.

Time frame
Baseline
4

Frequency of abdominal pain

Proportion of children presenting with abdominal pain during attacks.

Time frame
Baseline

Other outcomes

Locations

This trial has no locations.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Assiut University

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: