Observational Study of Familial Mediterranean Fever and Related Disorders

This observational study aims to understand the genetic causes and characteristics of diseases that cause repeated fevers, such as Familial Mediterranean Fever (FMF), TRAPS, and hyper-IgD syndrome. Researchers are looking for people with known or suspected autoinflammatory diseases, their family members, and healthy volunteers. The study involves medical history, physical exams, blood and urine tests, and DNA collection. Some participants may also have X-rays or specialist consultations. The main goal is to find genetic differences that make people susceptible to these inflammatory conditions. This study is currently unclear on its recruitment status and does not involve any specific interventions or drugs.

Study design
This is an observational study planning to enroll up to 5000 participants. It is designed to explore the natural history of these conditions.
What's involved
Participants will undergo a medical and family history, physical examination, blood and urine tests. Additional tests like X-rays, specialist consultations, and DNA sample collection may also occur.
Compensation
Not stated in the trial record.
Follow-up
Genetic linkage in autoinflammatory disease will be measured annually. Other follow-up details are not specified.

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NCT00001373

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Recruiting
Not specifiedAges 2+Observational
National Human Genome Research Institute (NHGRI)
~5,000 participants
Updated 2026-08-03 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 5 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Genetic linkage in autoinflammatory dise
Measured over annually
Familial Mediterranean Fever (FMF)
Autoinflammation
Periodic Fever
Fever
Genetic Diseases
ROSAH
ALPK1
5 sites across 3 states
Maryland3
District of Columbia1
Pennsylvania1
  • Benjamin D Solomon, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

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  • Genetic linkage in autoinflammatory diseannually

    discovery of genetic associations to autoinflammatory disorders