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Scientists seek genetic clues to mysterious fever diseases

NCT ID NCT00001373

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jul 01, 2026 · Updated 2 times

Summary

This study aims to learn more about the genetics and natural history of autoinflammatory diseases, which cause repeated fevers and inflammation. Researchers will study up to 5,000 people, including patients, their relatives, and healthy volunteers. Participants provide blood and saliva samples for genetic testing and may have medical exams and follow-up visits every six months.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

autoinflammatory syndrome familial Mediterranean fever Fever Headache hereditary disease hereditary periodic fever syndrome hyperimmunoglobulinemia D with periodic fever Hypohidrosis inherited retinal dystrophy periodic fever syndrome retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome Splenomegaly TNF receptor 1-associated periodic fever syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ALPK1 AUTOINFLAMMATION FAMILIAL MEDITERRANEAN FEVER (FMF) FEVER GENETIC DISEASES PERIODIC FEVER ROSAH

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Childrens National Medical Center

    COMPLETED

    Washington D.C., District of Columbia, 20010, United States

  • Johns Hopkins University

    COMPLETED

    Baltimore, Maryland, 21205, United States

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Pittsburgh

    NOT_YET_RECRUITING

    Pittsburgh, Pennsylvania, 15261, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Walter Reed National Medical Center

    COMPLETED

    Bethesda, Maryland, 20301, United States