Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 1999

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetics and characteristics of certain diseases that cause periodic fevers, including Familial Mediterranean Fever (FMF) and related disorders. The researchers want to learn more about how these conditions affect people and how they are passed on in families. To do this, they are inviting patients with known or suspected autoinflammatory diseases, their family members, and healthy volunteers aged 7 years and older to participate.

Participants can expect to undergo a variety of tests, including medical history reviews, physical exams, and blood and urine tests. Some may also have additional procedures like X-rays and DNA sample collection for genetic studies. Patients will be monitored every six months to track symptoms and treatment options, while family members will receive similar follow-up. Healthy volunteers will have a simple health check and provide a small blood sample. This study aims to help improve understanding of these conditions and their genetic links, which could lead to better treatment and counseling for affected families.

Gender

ALL

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. 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.

Trial Officials