Variations in Signs and Symptoms Due to Hereditary Hemochromatosis
Study Description
Conduct tests among family members where at least one individual is confirmed to have hemochromatosis. For each individual, we will determine what types of genes are present, how much iron the body has accumulated and whether or not the iron has damaged the liver, heart, or joints. Tests will include analyzing DNA for mutations to the hemochromatosis gene, blood samples, x-rays, electrocardiogram, echocardiogram, IVGTT, OGTT, DEXA scan, calorimetry, and a possible liver biopsy.
The study requires an overnight stay in the General Clinical Research Center (GCRC) followed by weekly or monthly phlebotomies as needed by the individual. A follow up stay for all the tests (except the liver biopsy) is requested once ferritin levels are optimal for approximately one year.
Objectives
Primary Objective(s):Study families in which at least one individual has hemochromatosis. This will help identify modifier genes that affect the degree of iron overload found in hemochromatosis homozygotes. This will enable physicians to better understand why some people with hemochromatosis develop signs and symptoms and some do not.
Contact Information
Status:
Name, Phone, Email:
Deborah Burton, RN,
801-585-6745 or
801-585-1566
Deborah.burton@hsc.utah.edu
Principle Investigator:
Donald McClain, M.D., PhD
James P. Kushner, M.D.
Please Note:
Study Coordinators and Research Nurses cannot give medical advice over the phone. Telephone numbers are provided for obtaining additional information on specific clinical research trials only. If you have specific questions which require clinical expertise, please call your primary care physician. If you do not have a primary care physician, we can help you find a University of Utah doctor or clinic location to meet your health care needs.
Although the studies described on this Web site may have potential benefits as described, the University of Utah and its physicians and affiliated hospitals cannot and do not guarantee or promise that you will receive any benefits from participating in a study.
Participant Eligibility
Inclusion Criteria:- Individuals from families where at least one member is confirmed to have hemochromatosis.
- Individuals under the age of 18.
- Pregnant women. (A pregnancy test will be given to women of childbearing potential at the time of the blood sampling. If you are found to be pregnant, no further studies will be done until after your baby is born and you have fully recovered.)
How long does the study run?
Open Ended.Location(s) of the Clinical Trial
University of Utah Medical CenterSalt Lake City, UT 84132
