Genes Influencing Iron Overload State

Completed

Conditions studied: Sickle Cell Disease, Thalassemia, Marrow Aplasia

In brief

Iron overload, which can be defined operationally as too much iron in the body, develops as a consequence of too many blood transfusions given, or due to genetic defects hereditary hemochromatosis). Iron accumulates in several organs in the body, such as the heart, liver, endocrine glands (pancreas, thyroid, etc.), and spleen. Excessive iron can damage organs and may even cause death. Iron overload needs to be appropriately monitored and treated to avoid unnecessary morbidity and mortality. The present study, GENIOS, proposes to test prospectively the hypothesis that genetic modifiers influence the iron overload status of patients receiving transfusions. To test this hypothesis, the study will perform genetic studies to investigate possible genetic influences for iron accumulation in the body and will study iron accumulation not only in the liver, but also in the heart, pancreas, kidneys, and spleen. In addition: the study will investigate if these same genes have any role during treatment of iron overload, in other words, if certain genetic mutations will influence how iron exits the body. This study will also investigate how substances that are known to control the trafficking of iron in and out of the body and its damaging effects to the tissues (hepcidin and non transferrin-bound iron) are linked to the accumulation of iron in the heart and liver. Iron in the body will be measured by R2\*MRI and no liver biopsies will be required. Genetic studies will be done by specialized tests using peripheral blood DNA. Iron accumulates differently in different people and in different organs of the body. Some people accumulate iron faster than others, even when receiving the same number of blood transfusions

Key facts

Study ID

NCT01158794

Run by

St. Jude Children's Research Hospital

People needed

50

Starts

2010-09-21

Expected to finish

2019-04-17

Last updated by the study team

2019-09-18

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• History of ≥ 12 lifetime erythrocyte transfusions who have not yet initiated treatment to unload iron (iron chelation or therapeutic phlebotomy), or
• History of ≥ 12 lifetime erythrocyte transfusions who have initiated treatment to unload iron, but had liver iron content measurement (by R2*MRI) within 3 months prior to initiation of iron unloading treatment

You may not qualify if…

• Known contraindication to performance of MRI (e.g.: presence of MRI-incompatible ferromagnetic material in the body)
• Prior participation on the St. Jude MRIRON protocol

Where it is running

• St. Jude Children's Research Hospital — Memphis, Tennessee, United States

Full record on ClinicalTrials.gov

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