Sickle Cell Disease Clinical Trial
Official title:
Genes Influencing Iron Overload State
NCT number | NCT01158794 |
Other study ID # | GENIOS |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | September 21, 2010 |
Est. completion date | April 17, 2019 |
Verified date | September 2019 |
Source | St. Jude Children's Research Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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
Status | Completed |
Enrollment | 50 |
Est. completion date | April 17, 2019 |
Est. primary completion date | July 31, 2016 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
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 St. Jude MRIRON protocol |
Country | Name | City | State |
---|---|---|---|
United States | St. Jude Children's Research Hospital | Memphis | Tennessee |
Lead Sponsor | Collaborator |
---|---|
St. Jude Children's Research Hospital |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | This study will measure genetic modifiers influencing the iron overload status of patients receiving transfusions. | This study will measure the association between GSTM1 gene deletion and other candidate genes and the accumulation and clearance of body iron. | Once, at participant enrollment | |
Secondary | To explore the role of other iron metabolism-associated candidate genes on liver iron concentration of sickle cell patients with transfusional iron-overload. | Once, at participant enrollment | ||
Secondary | 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. | Once at baseline compared to 3 years after participant enrollment | ||
Secondary | Explore the role of GSTM1 genotypes and other iron metabolism-associated candidate genes on increase, maintenance, and decline of iron concentration patients with sickle cell disease and transfusional iron overload. | Decline of iron concentration is in the heart, pancreas, kidneys, and spleen. | Once at baseline compared to 3 years after participant enrollment | |
Secondary | Explore the role of GSTM1 gene deletion and other iron metabolism-associated candidate genes on increase, maintenance, and decline of iron concentration of non-sickle cell patients* with transfusional iron-overload. | Decline of iron concentration in the liver, heart, pancreas, kidneys, and spleen of non-sickle cell patients with transfusional iron-overload. | Once at baseline compared to 3 years after participant enrollment | |
Secondary | 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. | Once at baseline compared to 3 years after participant enrollment |
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