Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Part of paid clinical trials in Washington D.C., District of Columbia.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT00001373
Status
Recruiting
Apply to this trial

Conditions

  • ALPK1
  • Autoinflammation
  • Familial Mediterranean Fever (FMF)
  • Fever
  • Genetic Diseases
  • Periodic Fever
  • ROSAH

Eligibility Criteria

Sex
ALL
Age
2 Months - 115 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Mar 10, 1994
Status verified
May 2026

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: Affected
    Patients with auto-inflammatory disorders
  • Arm: Family Members
    Family members of patients
  • Arm: Healthy Volunteers
    Healthy Volunteers

Primary Outcome Measure

Genetic linkage in autoinflammatory dise [ Time Frame: annually ]

Central Contacts

Locations (5)

FacilityCityStateZIPSite coordinators
Childrens National Medical CenterWashington D.C.District of Columbia20010-
Johns Hopkins UniversityBaltimoreMaryland21205-
National Institutes of Health Clinical CenterBethesdaMaryland20892
NIH Clinical Center Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
Walter Reed National Medical CenterBethesdaMaryland20301-
University of PittsburghPittsburghPennsylvania15261
Daniella Schwartz
[email protected]
412-648-1587

Find similar trials in Washington D.C., DC

By research site
Childrens National Medical Center· Washington D.C., DCJohns Hopkins University· Baltimore, MDNational Institutes of Health Clinical Center· Bethesda, MDWalter Reed National Medical Center· Bethesda, MDUniversity of Pittsburgh· Pittsburgh, PA

Related Studies