Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
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|ClinicalTrials.gov Identifier: NCT00001373|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : November 27, 2020
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 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:
- Consultations with specialists
- DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome.
- Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness)
- 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.
|Condition or disease|
|Familial Mediterranean Fever (FMF) Autoinflammation Periodic Fever Fever Genetic Diseases|
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases|
|Actual Study Start Date :||March 10, 1994|
Patients with auto-inflammatory disorders
Family members of patients
- Genetic linkage in autoinflammatory dise [ Time Frame: annually ]discovery of genetic associations to autoinflammatory disorders
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001373
|Contact: Amanda K Ombrello, M.D.||(301) firstname.lastname@example.org|
|Contact: Daniel L Kastner, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Daniel L Kastner, M.D.||National Human Genome Research Institute (NHGRI)|