NCT00068159

Cardiac Function in Patients With Hereditary Hemochromatosis

Completed Last updated 3 May 2024

What this trial tests

trial in Hereditary Hemochromatosis in 70 participants. Completed in 6 July 2022.

Timeline

8 December 2003

Primary endpoint
12 November 2010

6 July 2022

Quick facts

Lead sponsor	National Heart, Lung, and Blood Institute (NHLBI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	70
Start date	8 December 2003
Primary completion	12 November 2010
Estimated completion	6 July 2022
Sites	1 location across United States

Conditions studied

• Hereditary Hemochromatosis — all drugs for Hereditary Hemochromatosis →

Sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Who can join

Adults 21 to 100, any sex, with Hereditary Hemochromatosis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study will examine the effect of iron buildup in the hearts of patients with hereditary hemochromatosis (HH), a genetic disease that causes the body to accumulate excess amounts of iron. The excess iron can damage the heart, liver, pancreas, skin, and joints. Generally, early treatment with phlebotomy (periodic removal of a unit of blood), and in some cases chelation (using a drug to remove iron from the body) slows down organ damage in HH patients. This study will try to elucidate the effect of iron buildup in the heart and determine if phlebotomy and chelation help keep the heart healthy.

Patients with HH and healthy volunteers 21 years of age and older may be eligible for this study. (Normal volunteers will provide normal values of heart function that will be used to verify abnormalities detected in HH patients.) Patients must have a gene abnormality of Hfe gene Cys282Try homozygote. They may or may not be receiving treatment for HH and they must have no heart symptoms or serious organ damage due to HH. Candidates will be screened with a medical history and physical examination, blood tests, electrocardiogram (EKG), Holter EKG (24-hour EKG monitoring, see description below), and chest x-ray.

Participants will undergo the following tests and procedures over 2 to 5 days:

* Exercise test: The participant exercises on a treadmill while wearing a mouthpiece, which is used to measure how much oxygen is used. Electrodes placed on the chest and arms monitor the heartbeat during the test.
* Echocardiography: This ultrasound test uses sound waves to take pictures. A small probe is held against the chest to allow a technician to take pictures of the heart and assess its function. A drug called Optison may be injected in an arm vein if needed to enhance the ultrasound images.
* Exercise stress echocardiography: The participant exercises on a stationary bike while heart function is measured with an echocardiogram, EKG, and blood pressure cuff.
* 24-hour Holter EKG: The participant wears a small machine that records heart rhythm continuously for 24 hours. The recorder is connected by cables to electrodes placed on the chest.
* Magnetic resonance imaging: This test uses a magnetic field and radio waves to obtain detailed images of the heart and blood vessels. The participant lies flat on a table that slides inside the scanner, which is a large hollow tube.

All tests are performed once in normal volunteers and in patients who have received standard treatment for HH. Untreated patients repeat the tests 6 months after beginning phlebotomy or chelation. Additional time points for these tests might be added if further evaluation is needed.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Iron Overload or Oxidative Stress? Insight into a Mechanism of Early Cardiac Manifestations of Asymptomatic Hereditary Hemochromatosis Subjects with C282Y Homozygosity.
   Shizukuda Y, Tripodi DJ, Rosing DR. · · 2016 · cited 13× · PMID 27271161 · DOI 10.1007/s12265-016-9704-2
2. Changes in exercise capacity in subjects with cardiac asymptomatic hereditary hemochromatosis during a follow-up after 5 yrs.
   Shizukuda Y, Smith KP, Tripodi DJ, Arena R, et al · · 2012 · cited 4× · PMID 22311055 · DOI 10.1097/phm.0b013e3182465f5f
3. Effect of standard phlebotomy on myocardial and hepatic iron levels in newly diagnosed cardiac asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity.
   Shizukuda Y, Patricia Bandettini W, Rosing DR. · · 2023 · cited 1× · PMID 37206277 · DOI 10.1002/jha2.662