Genes Influencing Iron Overload State
N/A
N/A
Both
Sickle Cell Disease, Thalassemia, Marrow Aplasia
Trial Information
Genes Influencing Iron Overload State
This study will focus on the following primary objective:
- To investigate the association of GSTM1 gene deletion and liver iron concentration in
patients with sickle cell disease and transfusional iron-overload.
The Secondary Objectives of the study are:
- To explore the role of other iron metabolism-associated candidate genes on liver iron
concentration of sickle cell patients with transfusional iron-overload.
- To explore the role of GSTM1 genotypes and other iron metabolism-associated candidate
genes on maintenance and decline of liver iron concentration of patients with sickle
cell disease and transfusional iron-overload.
- To explore the role of GSTM1 genotypes and other iron metabolism-associated candidate
genes on increase, maintenance, and decline of iron concentration in the heart,
pancreas, kidneys, and spleen of patients with sickle cell disease and transfusional
iron overload.
- To explore the role of GSTM1 gene deletion and other iron metabolism-associated
candidate genes on increase, maintenance, and decline of iron concentration in the
liver, heart, pancreas, kidneys, and spleen of non-sickle cell patients with
transfusional iron-overload.
- To explore the relationship between Non-Transferrin Bound Iron (NTBI), hepcidin, organ
function, and iron increase, maintenance, and decline in the liver, heart, pancreas,
kidneys, and spleen of patients with transfusional iron overload.
Inclusion Criteria:
- 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
Exclusion Criteria
- Known contraindication to performance of MRI (e.g.: presence of MRI-incompatible
ferromagnetic material in the body)
- Prior participation on the MRIRON protocol
Type of Study:
Observational
Study Design:
Observational Model: Case-Only, Time Perspective: Prospective
Outcome Measure:
This study will measure genetic modifiers influencing the iron overload status of patients receiving transfusions.
Outcome Description:
This study will measure the association between GSTM1 gene deletion and other candidate genes and the accumulation and clearance of body iron.
Outcome Time Frame:
4 years
Safety Issue:
No
Principal Investigator
Jane Hankins, MD, MS
Investigator Role:
Principal Investigator
Investigator Affiliation:
St. Jude Children's Research Hospital
Authority:
United States: Institutional Review Board
Study ID:
GENIOS
NCT ID:
NCT01158794
Start Date:
August 2010
Completion Date:
July 2016
Related Keywords:
- Sickle Cell Disease
- Thalassemia
- Marrow Aplasia
- Iron overload
- Blood Transfusion
- Anemia, Sickle Cell
- Thalassemia
- Iron Overload
Name | Location |
|---|---|
| St. Jude Children's Research Hospital | Memphis, Tennessee 38105-2794 |
