ClinicalTrials.gov record NCT07849998

Genotype and Phenotype in Pediatric Familial Mediterranean Fever

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Oct 10, 2026

Genotype-Phenotype Association in Pediatric Familial Mediterranean Fever Experienced From Assiut University Children Hospital

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUnder 1 month old to 18 years old
SexAll
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This cross-sectional observational study looks at children with Familial Mediterranean Fever to record their MEFV gene results and clinical features. Investigators will measure disease severity using the ISSF score and analyze how genetic variants relate to symptoms and severity in a single assessment.

What it is studying. Whether and how different MEFV gene variants relate to clinical features and disease severity (ISSF) in children with FMF.

What the researchers hope to learn. Document the frequency of MEFV gene mutations among the studied children; determine the mean ISSF disease severity score; report mean age at symptom onset and diagnosis; describe frequencies of fever, abdominal pain, arthritis/arthralgia, and chest pain during attacks; report mean daily colchicine dose and proportion of patients with complete colchicine response.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participation involves a single, one-time clinical assessment. During that visit study staff will record medical history (including age at symptom onset and diagnosis), symptoms during attacks (for example fever, abdominal pain, arthritis/arthralgia, or chest pain), calculate the International Severity Scoring System for FMF (ISSF) score, and record available MEFV genetic test results plus current colchicine dose and response. The registry record does not list any invasive study procedures. The registry requires that you already have MEFV genetic testing to join; it does not state that the study will perform genetic testing.

How the study is structured. Observational, case-only, cross-sectional study with a single cohort of pediatric FMF patients. Each participant has one study assessment during which clinical features, the International Severity Scoring System for FMF (ISSF) score, and MEFV genetic results are recorded and analyzed. No treatments are assigned by the study.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • No sites are listed on the registry yet. Where will the study take place?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on familial Mediterranean fever

Clinical trials62 trials listed for familial Mediterranean feverEvery trial the registry lists for familial Mediterranean fever, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in familial Mediterranean fever researchLatest monthly update: September 2026. Includes: Colchicine form change. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Sep 26, 2026 (estimated)
Primary completion
Sep 26, 2027 (estimated)
Study completion
Feb 20, 2028 (estimated)
Target enrollment
84 participants (estimated)
Last updated on registry
Oct 5, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assiut University
Principal investigator
Rana Ashraf Ahmed Hussein, Principal Investigator
Assiut University

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites

Study locations have not been posted on ClinicalTrials.gov yet. This study is not yet recruiting, so sites may be added when recruitment begins. The central study contact above may be able to tell you about planned sites.

Terms used on this page · explanations by MedicalUpdates.ai

Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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