Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

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.