Search / Trial NCT00001373

Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 1999

Trial Information

Current as of September 11, 2024

Recruiting

Keywords

Splenomegaly Retinal Dystrophy Periodic Fever Optic Nerve Edema Headache Genetics Familial Mediterranean Autoinflammation Anhidrosis Alpha Kinase 1

Description

This is an exploratory natural history protocol that enrolls patients with known or as yet undiagnosed disorders of inflammation. Blood, saliva, or buccal samples will be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, a small number of subjects may undergo skin biopsy, leukapheresis, or bone marrow aspiration and biopsy, and some subjects will be provided standard medical care follow up, with retrospective analysis of the clinical data gathered during follow up. The primary objective is to discover the genetic basis of human diso...

Gender

ALL

Eligibility criteria

  • * INCLUSION CRITERIA:
  • There are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. In order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:
  • 1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  • 2. Regardless of gender, at least one month of age;
  • 3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and
  • 4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.
  • In order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:
  • 1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);
  • 2. Regardless of gender, at least one month of age;
  • 3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;
  • 4. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative s possible autoinflammatory condition; and
  • 5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.
  • In order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:
  • 1. Stated willingness to participate in study procedures for healthy volunteers;
  • 2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period);
  • 3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and
  • 4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.
  • EXCLUSION CRITERIA:
  • For any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.

About Sponsor

The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.

Contacts

JC

Jennifer Cobb

Immunology at National Institute of Allergy and Infectious Diseases (NIAID)

Locations

Pittsburgh, Pennsylvania, United States

Bethesda, Maryland, United States

Bethesda, Maryland, United States

Baltimore, Maryland, United States

Bethesda, Maryland, United States

Washington, District Of Columbia, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0