Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial.
Philip J Hashkes, Steven J Spalding, Edward H Giannini...
https://pubmed.ncbi.nlm.nih.gov/23070486Actively 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
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 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
AI-Screening
AI-Powered Screening
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1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Occurs at enrollment
Participants provide samples such as blood, saliva, or buccal swabs for genetic and immunologic analysis, and some may undergo procedures like skin biopsy or bone marrow aspiration.
1 to 2 visits depending on procedures
Long-term Monitoring
Duration - Ongoing, with annual assessments
Participants are observed over time with standard medical care follow-up and retrospective analysis of clinical data to understand the natural history of autoinflammatory diseases.
Annual visits for clinical data review
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
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Published Research Related To This Trial
Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
Ivona Aksentijevich, Daniel L Kastner
https://pubmed.ncbi.nlm.nih.gov/21727933Efficacy 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