What is this study trying to find out about autoinflammatory diseases?

This study aims to understand the genetic causes and biological features of diseases that cause intermittent fever and inflammation. Researchers want to identify genetic variants and immune system characteristics linked to these conditions to improve knowledge. The study is sponsored by the National Human Genome Research Institute (NHGRI). Participants can expect genetic testing and clinical evaluations during the study.

Who may be eligible for this autoinflammatory disease clinical trial?

People of all genders aged at least one month may qualify if they have a known or suspected autoinflammatory disease, are related to someone with such a condition, or are healthy volunteers at least one year old and not pregnant. Participants must be willing to provide genetic samples and sign consent forms. Please review eligibility criteria for more details.

Is there any cost to participate in this autoinflammatory disease clinical trial?

Study-related care, including all study procedures and visits, is provided at no cost. However, personal travel expenses may vary and are not guaranteed to be covered. Participants should plan accordingly for any travel or related costs.

Actively Recruiting

Age: 2Months - 115Years

All Genders

Healthy Volunteers

ID00001373

An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases

Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-06-05

5000

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are exploring the genetics and biological processes behind diseases that cause intermittent fever, such as familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related disorders. This observational study aims to discover genetic variants linked to these inflammatory diseases and to understand immune system features and the clinical characteristics of these conditions through detailed genetic and medical data analysis. Participants include patients with known or suspected autoinflammatory diseases, their family members, and healthy volunteers. Patients may undergo a variety of tests and procedures, including physical exams, blood and urine tests, X-rays, specialist consultations, and genetic sampling via blood or saliva. Some may undergo leukapheresis to collect white blood cells, while relatives and healthy volunteers may also provide samples for genetic and functional studies. Follow-up visits occur approximately every six months to monitor symptoms and adjust care as needed. During the study, participants will provide medical and family histories, undergo physical exams, and complete various laboratory tests. Genetic counseling is offered to discuss risks and treatment options. Researchers will measure genetic linkages annually to identify variants related to inflammatory diseases. The study involves ongoing monitoring to collect clinical data and biological samples, supporting a comprehensive understanding of these rare inflammatory conditions.

CONDITIONS

Brief Title

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Who Can Participate

Age: 2Months - 115Years

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

Willingness to participate in study procedures, including providing a genetic sample
At least one month old (regardless of gender)
Medical history consistent with possible autoinflammatory disease (for patients)
Relationship by blood or marriage to a participant with known or suspected autoinflammatory disease (for family members)
Healthy volunteers must be at least one year old and not pregnant
Ability to understand and sign informed consent (or parent/guardian consent for minors)

You will not qualify if you...

Any medical condition that would confuse the interpretation of the study results, as determined by the investigators

Research Team

Amanda K Ombrello, M.D.

Benjamin D Solomon, M.D.

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