Status:

RECRUITING

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Lead Sponsor:

National Human Genome Research Institute (NHGRI)

Collaborating Sponsors:

University of Massachusetts, Worcester

Duke University

Conditions:

Familial Mediterranean Fever (FMF)

Autoinflammation

Eligibility:

All Genders

2-115 years

Brief Summary

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 diseas...

Detailed Description

Study Description This is an exploratory natural history protocol that will enroll patients with known or as yet undiagnosed disorders of inflammation. Blood, saliva, or buccal samples will be collec...

Eligibility Criteria

  • INCLUSION CRITERIA:

There are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. Persons interested in participation may be given a screening questionnaire to determine eligibility. Questions in the screening questionnaire are important to help us determine if subjects have known autoinflammatory diseases, or if there is a high clinical suspicion of autoinflammatory disease.

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:

  1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  2. Regardless of gender, at least one month of age;
  3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and
  4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.

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:

  1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  2. Regardless of gender, at least one month of age;
  3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
  4. 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
  5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.

In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:

  1. Stated willingness to participate in study procedures for healthy volunteers;
  2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period);
  3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and
  4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

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.

Key Trial Info

Start Date :

March 10 1994

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

Estimated Enrollment :

5000 Patients enrolled

Trial Details

Trial ID

NCT00001373

Start Date

March 10 1994

Last Update

April 16 2026

Active Locations (5)

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Page 1 of 2 (5 locations)

1

Childrens National Medical Center

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

2

Johns Hopkins University

Baltimore, Maryland, United States, 21205

3

Walter Reed National Medical Center

Bethesda, Maryland, United States, 20301

4

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892