RecruitingNot a traditional drug phaseobservationalRules rewrite

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases. The following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older.

Official registry: https://clinicaltrials.gov/study/NCT00001373 · National Human Genome Research Institute (NHGRI) · enrollment listed as 5,000

What this phase means

This is an observational study. You are not assigned a new experimental drug. Researchers measure what already happens in your care or in daily life.

Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

What the registry says happens

This listing is observational (StudyType). The registry does not assign a new experimental drug as the study intervention.

They plan to enroll about 5,000 people at 5 sites. Taking part typically means study visits and measurements plus check-ins.

Official title (unrewritten)

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

Primary outcome (registry wording): Genetic linkage in autoinflammatory dise

Who it is for (from inclusion criteria)

Ages 2 Months to 115 Years
In order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:
Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
Regardless of gender, at least one month of age;
A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and
In order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:
Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and

Who the registry excludes

For any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study

Public study contact (from the registry)

Amanda K Ombrello, M.D.

(301) 827-4258

ombrelloak@mail.nih.gov

Published on ClinicalTrials.gov. Contact them as a possible participant. They decide eligibility.

Sites listed on ClinicalTrials.gov

5 listed

Childrens National Medical Center — Washington D.C., District of Columbia (completed)
Johns Hopkins University — Baltimore, Maryland (completed)
Walter Reed National Medical Center — Bethesda, Maryland (completed)
National Institutes of Health Clinical Center — Bethesda, Maryland (recruiting)
University of Pittsburgh — Pittsburgh, Pennsylvania (not_yet_recruiting)

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FAQ about this NCT record

Is NCT00001373 still recruiting?

The sponsor posted status “Recruiting” on ClinicalTrials.gov at last ingest. Sites can pause independently. Confirm with the official record and the listed contact.

What phase is NCT00001373?

Not a traditional drug phase. Phase labels are FDA/ICH categories applied to the registry Phase field. They are not a finding that this study succeeded.

Can PlainTrials tell me if I qualify for NCT00001373?

No. The inclusion and exclusion lists on this page are readable extracts of the public eligibility block. Only the study team can screen you.

How to read a ClinicalTrials.gov record · Questions to ask the coordinator · Glossary