RecruitingNot Applicable

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

United States5,000 participantsStarted 1994-03-10

Plain-language 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 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. Patients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following: 1. X-rays 2. Consultations with specialists 3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome. 4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness) 5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm. Patients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options. Participating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion (stickiness). Relatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above. Normal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future.

Who can participate

Age range

2 Months – 115 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion 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
. 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.
. 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;

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This trial seems to focus on collecting genetic and disease information rather than testing a treatment — does that mean participating would mainly involve things like blood draws, medical history reviews, or genetic testing, and how might that fit into my current care?
2Since the trial is studying genetic linkage in conditions like Familial Mediterranean Fever, ROSAH, and ALPK1-related disorders, could participating help clarify whether my or my family's symptoms have a specific genetic cause that might change my diagnosis or treatment options?
3Given that this is listed as Phase NA and appears to be an observational or natural history study at the NIH, would joining this trial affect my access to standard treatments like colchicine, or would I continue my usual care alongside participation?
4Because this study includes several related but distinct autoinflammatory conditions, is it worth discussing whether my specific diagnosis fits within the scope of what they're studying, and could the results help distinguish FMF from other periodic fever syndromes in my case?
5If a genetic finding comes out of this research that's relevant to my family members, would my doctor be able to share those results with me or help connect us with genetic counseling?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Genetic linkage in autoinflammatory dise

Timeframe: annually

Trial details

NCT IDNCT00001373

SponsorNational Human Genome Research Institute (NHGRI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Contact for this trial

Amanda K Ombrello, M.D.

(301) 827-4258 ombrelloak@mail.nih.gov

View on ClinicalTrials.gov More Familial Mediterranean Fever (FMF) trials