Protocol Number: 94-AR-0105
The following individuals may be eligible for this study: 1) patients 5 years of age and older with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 18 years of age or older; and 4) healthy patients with gout 18 years of age or older who are taking colchicine. 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 sample or cells obtained from a brushing of the inside of the cheek) for genetic studies, if this has not already been done. 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. 6. Bone marrow aspiration to study white cells early in their development. This procedure will be requested of only a few patients. An area of skin on the back is numbed, a needle is inserted into a pelvic bone, and a small amount of bone marrow is withdrawn. Patients will be followed approximately every 6 months to monitor symptoms, adjust medicine levels, and undergo routine blood and urine tests. They will receive genetic counseling 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 cheek swabbing) will also be collected for genetic studies. Additional blood samples of no more than 1 pint during a 6-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.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 01/30/2009
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