Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias
16 Years
N/A
Both
Sickle Cell Disease, Thalassemia, Diamond-Blackfan Anemia
Trial Information
Pilot Study Examining Mechanisms of Iron Trafficking and Extra-hepatic Iron Distribution in Sickle Cell Disease, Thalassemia, and Other Iron Loading Anemias
A detailed iron burden, transfusion and chelation history will be obtained from chart review
or from participant recall.
Iron burden data will include: 1) documentation of liver iron, and 2) average annual
ferritin values.
Transfusion data will include: (1) age at onset of regular transfusions, (2) years of
chronic transfusion therapy, and (3) pre-transfusion Hb calculated as average of all
assessments for each year.
MRI will be performed measuring pituitary, cardiac, and liver iron.
Laboratory samples should be obtained pre-transfusion and mid-cycle.
All interviews, exams, laboratory tests, study procedures and MRI assessments should be
completed within a 0 to 12 weeks time span.
In addition, a healthy control group will also be recruited with similar age, gender, and
ethnicity as the disease groups.
Inclusion Criteria:
- 10-20 years of transfusion (defined as 0.2-0.6mg Fe/kg/day exposure with annual
ferritin levels greater than 2500 in at least 60% of years of chronic transfusion);
- 0 to 9 years old at the initiation of chronic transfusions; no exchange transfusions
in the previous 6 months
- iron overload documented by either liver biopsy, MRI or SQUID with estimated LIC of
greater than 7 mg/g dry wt in the previous 6 months or ferritin level greater than
1500mg/dl.
Exclusion Criteria:
- Patients with HbSC, HbS/β thalassemia
- Pacemaker (active or inactive) or other implanted magnetic devices, severe
claustrophobia, or other contraindications to MRI; Unable to remove ferro-magnetic
objects from the body in regions to be imaged (e.g., jewelry or piercing)
- Presence of any other condition which, in the opinion of the investigator, would make
the patient unsuitable for enrollment;
- Any chronic inflammatory illness other than the SCD, TM or DBA;
- Any acute illness within a 14 day period prior to blood sampling;
- Patients receiving intensive chelation in the 6 months prior to enrollment including
deferoxamine 24 hours per day, 7 days per week or combination treatment with 2
chelators
- Pregnancy
Type of Study:
Observational
Study Design:
Observational Model: Case Control, Time Perspective: Prospective
Outcome Measure:
Pilot study of biochemical mechanisms of iron deposition in patients with Sickle Cell Disease, Thalassemia and Diamond-Blackfan Anemia.
Outcome Description:
To examine the hypothesis that a chronic inflammatory state in Sickle Cell Disease (SCD) leads to hepcidin- and cytokine-mediated iron withholding within the RES (reticuloendothelial system), lower plasma NTBI (non transferrin bound iron) levels, less distribution of iron to the heart in SCD, and finally lower uptake and enhanced export of NTBI by cardiomyocytes conditioned by SCD serum, when compared with similarly iron overloaded patients with beta thalassemia and diamond blackfan anemia.
Outcome Time Frame:
March 2010 - August 2012
Safety Issue:
No
Principal Investigator
Elliott Vichinsky, MD
Investigator Role:
Principal Investigator
Investigator Affiliation:
Children's Hospital & Research Center Oakland
Authority:
United States: Institutional Review Board
Study ID:
2009-068
NCT ID:
NCT01114776
Start Date:
November 2009
Completion Date:
September 2012
Related Keywords:
- Sickle Cell Disease
- Thalassemia
- Diamond-Blackfan Anemia
- Anemia
- Anemia, Sickle Cell
- Thalassemia
- Anemia, Diamond-Blackfan
Name | Location |
|---|---|
| Children's Hospital & Research Center Oakland | Oakland, California 94609 |
