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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

05-dk-0085

Sponsoring Institute

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

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Hemoglobin;
Hemoglobinapathies;
Human Genome;
Recombinant DNA Technology;
Sequencing;
Genotype;
Phenotype;
Erythrocyte;
Erythroid;
Lymphoblastoid Cell Line;
Iron

Recruitment Keyword(s)

Hemoglobin;
Erythrocyte

Condition(s)

Hemoglobinopathies;
Hemolysis;
Iron Deficiency and Overload;
Anemias

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Diabetes and Digestive and Kidney Diseases

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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Eligibility

INCLUSION CRITERIA:

Group 1: Patients with known iron or erythroid diseases (examples: iron deficient 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).

OR

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: 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. 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.

-Women who are pregnant or breastfeeding who fall into Groups 1-4 are eligible to enroll in this protocol. Within Group 4 (healthy volunteers, pregnant or breastfeeding), the research will not involve greater than minimal risk.

GENERAL EXCLUSION CRITERIA:

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.

INCLUSION AND EXCLUSION CRITERIA FOR BONE MARROW SAMPLING:

With the exception of minors, pregnant females, and breast-feeding mothers, volunteers who meet the General Inclusion Criteria for blood collection may be offered the option of bone marrow sampling as part of this protocol. Minors, pregnant females, and breastfeeding mothers will be excluded from bone marrow sampling specifically performed for this protocol. However, they will be asked to consent for collection of up to an additional sample of bone marrow if 1) they are undergoing a bone marrow sampling procedure for clinical purposes, and 2) collection of the additional bone marrow undergoing a clinical procedure if the research sample collection doesn t alter the clinical procedure.

Other bone marrow sampling exclusion criteria include: 1) allergy to xylocaine (lidocaine) or the skin cleansing medication chlorhexidine/Hibiclens. 2) clotting disorders, low platelets (< 50,000k) or are taking medications that interfere with blood clotting, such as aspirin, non-steroidal anti-inflammatory agents (such as Motrin or Advil) or blood thinning agents (such as coumadin/warfarin).


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Citations:

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. Epub 2007 Apr 3.

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.

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

Miller JL. Signaled expression of fetal hemoglobin during development. Transfusion. 2005 Jul;45(7):1229-32.

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. Epub 2005 Apr 26.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Jeffery L. Miller, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 9N311
10 CENTER DR
BETHESDA MD 20814
(301) 402-2373
jeffm@mail.nih.gov

Jeffery L. Miller, M.D.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
BG 10 RM 9N311
10 CENTER DR
BETHESDA MD 20814
(301) 402-2373
jeffm@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00102245

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