Clinical and Laboratory Investigation of Humans With Informative Iron or Erythroid Phenotypes

NCT00102245 | Terminated

• 2 other identifiers: 05008505-DK-0085
• Study Type: observational
• Target: 334
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hemoglobinopathies; Hemolysis; Iron Deficiency and Overload; Anemias

Keywords

Hemoglobin; Hemoglobinapathies; Human Genome; Recombinant DNA Technology; Sequencing; Erythrocyte

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• A clinically definable iron or erythroid cell phenotype as defined by:
• Group 1: Patients with known iron or erythroid diseases (examples: iron deficient anemia or ineffective erythropoiesis).
• Group 2: Patients with diseases of unknown etiology (example: unexplained iron overload or anemia).
• Group 3: Patients with an informative phenotype in the absence of overt clinical disease (example: hereditary persistence of fetal hemoglobin).
• Group 4: Healthy volunteers whose blood or bone marrow samples will be utilized to understand normal iron and erythroid biology and for comparison with the other groups described above.
• AGE AND GENDER CONSIDERATIONS:
• Age range: Infancy to unlimited
• Adults: Adults who fall into Groups 1-4 are eligible to enroll in this protocol. They must possess the ability to comprehend the investigational nature of the study and provide informed consent.
• Minors: Minors who fall into groups 1-4 are eligible to enroll in the study for collection of research blood. Within Group 4 (healthy volunteers, minors), the research will not involve greater than minimal risk.

You may not qualify if:

• Healthy volunteers and Subjects with iron or erythroid diseases who are unable to comprehend the investigational nature of the laboratory research are ineligible to enroll in this protocol.

Sponsors & Collaborators

• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (5)

• Goh SH, Josleyn M, Lee YT, Danner RL, Gherman RB, Cam MC, Miller JL. The human reticulocyte transcriptome. Physiol Genomics. 2007 Jul 18;30(2):172-8. doi: 10.1152/physiolgenomics.00247.2006. Epub 2007 Apr 3.

  PMID: 17405831 BACKGROUND

• Gubin AN, Njoroge JM, Wojda U, Pack SD, Rios M, Reid ME, Miller JL. Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family. Blood. 2000 Oct 1;96(7):2621-7.

  PMID: 11001920 BACKGROUND

• Gubin AN, Njoroge JM, Bouffard GG, Miller JL. Gene expression in proliferating human erythroid cells. Genomics. 1999 Jul 15;59(2):168-77. doi: 10.1006/geno.1999.5855.

  PMID: 10409428 BACKGROUND

• Miller JL. Signaled expression of fetal hemoglobin during development. Transfusion. 2005 Jul;45(7):1229-32. doi: 10.1111/j.1537-2995.2005.00182.x. No abstract available.

  PMID: 15987371 BACKGROUND

• Goh SH, Lee YT, Bhanu NV, Cam MC, Desper R, Martin BM, Moharram R, Gherman RB, Miller JL. A newly discovered human alpha-globin gene. Blood. 2005 Aug 15;106(4):1466-72. doi: 10.1182/blood-2005-03-0948. Epub 2005 Apr 26.

  PMID: 15855277 BACKGROUND

MeSH Terms

Conditions

Hemoglobinopathies; Hemolysis; Iron Deficiencies; Anemia

Condition Hierarchy (Ancestors)

Hematologic Diseases; Hemic and Lymphatic Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Iron Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jeffery L Miller, M.D.

  National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 25, 2005
• First Posted: January 26, 2005
• Study Start: January 18, 2005
• Study Completion: August 4, 2017
• Last Updated: February 14, 2018

Record last verified: 2017-08-04

Locations

US (1)