Actively Recruiting

Age: 2Months - 115Years
All Genders
Healthy Volunteers
ID00001373

Exploring Genetics and Disease Features in Familial Mediterranean Fever and Related Autoinflammatory Disorders

Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-28

5000

Participants Needed

5

Research Sites

N/A

Total Duration

On this page

Sponsors

N

National Human Genome Research Institute (NHGRI)

Lead Sponsor

U

University of Massachusetts, Worcester

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are exploring the genetics and underlying causes of diseases that cause intermittent fever, such as familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related conditions. This natural history study includes patients with these disorders, their relatives, and healthy volunteers aged 7 years or older. The goal is to discover genetic factors and immune system features linked to these inflammatory diseases and to better understand their clinical characteristics. Participants may provide medical and family histories, undergo physical exams, and give blood and urine samples. Additional procedures could include X-rays, specialist consultations, DNA collection from blood or saliva for genetic analysis, and leukapheresis to collect white blood cells. Patients may return approximately every six months for symptom monitoring, medication adjustments, and routine testing. Relatives with the diseases receive similar follow-up and counseling. Healthy volunteers and patients with gout have a brief health check and blood sample collection. Throughout the study, researchers collect data to identify genetic links and immune cell behaviors related to these diseases. Various tests and procedures support this, including genetic sequencing and functional studies of immune cells. Participants may also undergo skin biopsies or bone marrow sampling. The study may continue with follow-up visits to track health status and treatment effects over time, helping to identify genetic causes and immune patterns in inflammatory diseases.

CONDITIONS

Official Title

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Who Can Participate

Age: 2Months - 115Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Willingness to participate in study procedures, including providing a mail-in sample for genetic analysis
  • At least 1 month old (for subjects with known or suspected autoinflammatory disease and their relatives)
  • Medical history consistent with possible autoinflammatory disease (for subjects with known or suspected disease)
  • Blood or marriage relation to an enrolled or about-to-be-enrolled individual with known or suspected autoinflammatory disease (for relatives)
  • Likely to advance genetic or functional analysis of affected relative's condition (for relatives)
  • Ability to understand and willingness to sign informed consent (for all participants)
  • At least 1 year old and not pregnant (for healthy volunteers)
  • Likely to advance functional analysis of autoinflammatory conditions under study (for healthy volunteers)
Not Eligible

You will not qualify if you...

  • Having a medical condition that would confuse the interpretation of the study results, as judged by the investigators

AI-Screening

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Trial Site Locations

Total: 5 locations

1

Childrens National Medical Center

Washington D.C., District of Columbia, United States, 20010

Completed

2

Johns Hopkins University

Baltimore, Maryland, United States, 21205

Completed

3

Walter Reed National Medical Center

Bethesda, Maryland, United States, 20301

Completed

4

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

5

University of Pittsburgh

Pittsburgh, Pennsylvania, United States, 15261

Not Yet Recruiting

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Research Team

A

Amanda K Ombrello, M.D.

B

Benjamin D Solomon, M.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

3

Frequently Asked Questions

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Published Research Related To This Trial

Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study.

Ariel C Bulua, Douglas B Mogul, Ivona Aksentijevich...

https://pubmed.ncbi.nlm.nih.gov/22006113