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View Clinical Trial (Medical Research Study)
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Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes - NCT00102245-20892 (Clinical Trial 123356)
Permalink: http://www.ClinicalConnection.com/exp/ExpandedPatientViewStudy123356.aspx
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| City: |
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Bethesda |
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State:
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MD |
| Zip Code: |
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20892 |
| Conditions: |
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Hemoglobinopathies - Hemolysis - Iron Deficiency and Overload - Anemias |
| Purpose: |
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This study will examine blood for factors that may cause or prevent diseases involving iron
or red blood cells. Iron is an important nutrient for human health that is needed to produce
red blood cells. Red blood cells carry oxygen to body tissues. A better understanding of
iron and red blood cells may help lead to better treatment of several diseases including
anemia.
Patients of all ages with red cell abnormalities in the following categories may be eligible
for this study:
- Diseases with deficiency, overload or maldistribution of iron
- Known red blood cell diseases, such as anemias and hemoglobinopathies
- Red blood cell diseases of unknown cause, such as hemolysis of unknown cause
- Red blood cell abnormalities with no overt clinical disease, such as hereditary
persistence of fetal hemoglobin
Participants undergo the following procedures:
- Medical history
- Physical examination
- Standard medical tests related to the individual's iron or red blood cell condition
Blood draw for the following purposes:
- Testing for syphilis and for the hepatitis B and C, HIV, and HTLV-1viruses, and for a
pregnancy test for women who can become pregnant
- Research purposes. This blood is analyzed for genes, proteins, sugars, and fat
molecules.
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| Study summary: |
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Studies of iron and erythroid cells, have provided fundamental insights into
structure-function relationships of proteins, energy metabolism, and the molecular basis of
many diseases. Based upon the importance of iron for hemoglobin production, the regulation
of erythropoiesis and iron metabolism are closely linked, and iron deficiency anemia remains
as one of the most common diseases worldwide. The discovery of sickle hemoglobin as having
an abnormal electrophoretic mobility marked the beginning of the molecular medicine era. The
advent of recombinant DNA technology and sequencing methodologies resulted in the
characterization of erythroid cells well beyond that of protein-based studies to include
gene structure and expression. Globin gene research, in particular, has provided a wealth of
information about the expression, regulation and insulation of mammalian genes. More
recently, studies of iron absorption and trafficking provided new avenues of research aimed
toward growth and energy homeostatis. -Genome-based approaches were also utilized for the
discovery of direct relationships between erythroid cell biology and iron homeostasis.
Hence, there is strong evidence that fundamental clinical advances in the field of iron and
erythroid biology have been based upon the careful study of humans with informative
phenotypes. Clinically based correlation of genotype and phenotype is a proven, systematic
approach for understanding the molecular basis of disease.
With the completion of the sequencing of the human genome, a more complete, genetically
based description of erythroid cells is now achievable. Efforts aimed toward haplotype
mapping will further enhance genotype-phenotype correlation directly from clinical samples.
Considerable progress has already been made in this regard using "normal" human erythroid
cells. In contrast to classic studies involving single genes or proteins, computational
biology and high-throughput technologies permit the analysis of complex erythroid phenotypes
including those with related iron pathologies. This information will be invaluable for
understanding those molecular mechanisms that are altered in disease states.
The immediate aim of this protocol is to perform genotype-phenotypic analyses in humans with
informative erythroid phenotypes. These studies are expected to result in detailed clinical
phenotyping and the collection and banking of clinical specimens for further study. In
addition, we predict an ongoing growth of new technologies that may eventually be used for
molecular and genetic phenotyping of clinical samples (examples include oligonucleotide
chips and high-throughput mass spectroscopy). Based upon this prediction, we plan to use
the samples collected here to assess possible clinical uses of those technologies as they
become available. The eventual aim is the discovery of identifiers that may be predictive
of disease pathogenesis, severity or clinical response to intervention. |
| Criteria: |
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- INCLUSION CRITERIA:
A clinically definable iron or erythroid cell phenotype as defined by:
Group 1: Patients with known iron or erythroid diseases (example: iron deficiency anemia
or ineffective erythropoiesis).
OR
Group 2: Patients with diseases of unknown etiology (example: unexplained iron overload or
anemia).
OR
Group 3: Patients with an informative phenotype in the absence of overt clinical disease
(example: hereditary persistence of fetal hemoglobin).
For adults: Ability to comprehend the investigational nature of the study and provide
informed consent.
For minors: Written informed consent from one parent or guardian. Informed assent from
minors: The process will be explained to the minor on a level of complexity appropriate
for their age and ability to comprehend.
Women who are pregnant or breastfeeding are eligible to enroll in this protocol.
Age range: Birth to greater than 80 plus years. Unlimited
EXCLUSION CRITERIA:
Subjects who are unable to comprehend the investigational nature of the laboratory
research are ineligible to enroll in this protocol. |
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| Study is available at: |
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National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, MD 20892
United States
Primary Contact:
Patient Recruitment and Public Liaison Office
Email: prpl@mail.cc.nih.gov
Phone: (800) 411-1222 |
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If you are interested in this clinical trial please use the contact information above. If you would like to get additional information about this clinical trial please visit ClinicalTrials.gov.
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| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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March 15, 2010 |
Modifications to
this listing: |
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Only selected fields are shown, please use the link
above to view all information about this clinical trial. |
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Clinical trials are medical research studies designed to test the safety and/or
effectiveness of new drugs, devices, or treatments in humans. These studies are
conducted worldwide for a range of conditions and illnesses. Learn more about
clinical research and participating in a study at
About Clinical Trials.
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