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Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
NCT00001373 · View on ClinicalTrials.gov ↗
Study 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
Conditions Studied
Study Locations (5)
Maryland
- Johns Hopkins University — Baltimore
- Walter Reed National Medical Center — Bethesda
- National Institutes of Health Clinical Center — Bethesda
District of Columbia
- Childrens National Medical Center — Washington D.C.
Pennsylvania
- University of Pittsburgh — Pittsburgh
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 5,000 participants |
| Start Date | 1994-03-10 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001373
The ClinicalTrials.gov registry entry for NCT00001373 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 5,000 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 242 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 7 conditions, with Fever appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00001373 reports 5 study locations spanning 3 distinct geographic areas — top geographies include Maryland, District of Columbia, Pennsylvania. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00001373 about?
NCT00001373 is a clinical study titled "Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics". 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 know...
What is the current status of trial NCT00001373?
This trial is currently recruiting. The enrollment target is 5,000 participants. The study started on 1994-03-10.
What conditions does trial NCT00001373 study?
This clinical trial studies the following conditions: Fever, Genetic Diseases, ROSAH, Autoinflammation, Familial Mediterranean Fever (FMF). These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00001373?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 242 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00001373 being conducted?
This trial has 5 study locations across District of Columbia, Maryland, Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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