Exploring genetics and characteristics of familial Mediterranean fever and related disorders

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

This study is trying to understand the genetics and symptoms of diseases that cause fever, like familial Mediterranean fever, by looking at patients, their families, and healthy volunteers.

Quick facts

• Study type: Observational
• Enrollment: 5000 (estimated)
• Ages: 2 Months to 115 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 5 sites (Washington D.C., District of Columbia and 4 other locations)
• Trial ID: NCT00001373 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the genetics and pathophysiology of diseases characterized by intermittent fever, such as familial Mediterranean fever and TRAPS. Participants, including patients with known or suspected autoinflammatory diseases, their relatives, and healthy volunteers, will undergo medical evaluations, genetic testing, and various laboratory analyses. The study seeks to identify genetic variants associated with these conditions and to better understand the clinical features of these inflammatory disorders through comprehensive data collection and analysis.

Who should consider this trial

Good fit: Ideal candidates include individuals with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome, or related disorders, as well as their family members and healthy volunteers aged 7 years and older.

Not a fit: Patients without any known or suspected autoinflammatory diseases or those under 7 years of age may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of familial Mediterranean fever and related autoinflammatory disorders.

How similar studies have performed: Other studies exploring genetic factors in autoinflammatory diseases have shown promise, indicating that this approach may yield valuable insights.

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.

Where this trial is running

Washington D.C., District of Columbia and 4 other locations

• Childrens National Medical Center — Washington D.C., District of Columbia, United States (Completed)
• Johns Hopkins University — Baltimore, Maryland, United States (Completed)
• Walter Reed National Medical Center — Bethesda, Maryland, United States (Completed)
• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
• University of Pittsburgh — Pittsburgh, Pennsylvania, United States (Not_yet_recruiting)

Study contacts

• Principal investigator: Benjamin D Solomon, M.D. — National Human Genome Research Institute (NHGRI)
• Study coordinator: Amanda K Ombrello, M.D.

Conditions Familial Mediterranean Fever; Autoinflammation; Periodic Fever; Fever; Genetic Diseases; ROSAH; ALPK1; Splenomegaly