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Protocol Details

Screening for Alpha Globin Deletions

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

16-I-0065

Sponsoring Institute

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: No longer recruiting/follow-up only
Gender: Male & Female
Min Age: 18 Years
Max Age: 39 Years

Referral Letter Required

No

Population Exclusion(s)

Children

Keywords

Alpha Thalassemia;
Double Deletion

Recruitment Keyword(s)

None

Condition(s)

Alpha Thalassemia

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Allergy and Infectious Diseases

Background:

Alpha thalassemia is a blood disorder. It is caused by genetic deletions. Part of the DNA is missing from a group of genes called alpha globin. Alpha thalassemias are some of the most common genetic deletions. We are testing for alpha thalassemia trait. Alpha thalassemia trait is when someone has only two out of the normal four alpha globin genes. In some people, they lead to no symptoms. Others have changes that lead to disease, including mild anemia. Researchers want to learn more about alpha thalassemia and blood vessels. This may allow them to develop new treatments for blood diseases such as sickle cell disease.

Objective:

To better understand how alpha globin deletions in healthy people affect blood vessels.

Eligibility:

Healthy volunteers ages 18-39 who self-report African ancestry.

Design:

Participants will provide a one-time saliva sample. This can be by mail, in-person at a study event, or at NIH.

Participants will get a small kit to collect their saliva sample. The kit has easy instructions. The sample does not need to be put in the refrigerator.

Participants will spit a small amount of saliva (less than half a teaspoon) into a collection tube.

Participants will close the funnel lid tightly, and then unscrew the funnel lid from the tube. They will then close the tube tightly with the small cap provided and shake the tube for 5 seconds.

Participants will place the tube in the provided envelope and mail it to NIH. The specimen will be stored and processed in the lab.

Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait.

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Eligibility

INCLUSION CRITERIA:

Subject report of the following:

1. Age 18 - 39

2. Self-report of African ancestry

3. Willingness and legal ability to give and sign informed study consent

EXCLUSION CRITERIA:

There are no exclusion criteria for this screening protocol


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Citations:

Piel FB, Weatherall DJ. The -thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.

Embury SH, Dozy AM, Miller J, Davis JR Jr, Kleman KM, Preisler H, Vichinsky E, Lande WN, Lubin BH, Kan YW, Mentzer WC. Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med. 1982 Feb 4;306(5):270-4.

Straub AC, Lohman AW, Billaud M, Johnstone SR, Dwyer ST, Lee MY, Bortz PS, Best AK, Columbus L, Gaston B, Isakson BE. Endothelial cell expression of haemoglobin regulates nitric oxide signalling. Nature. 2012 Nov 15;491(7424):473-7. doi: 10.1038/nature11626. Epub 2012 Oct 31.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Amy P. Ruhl, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
NIHBC 10 - CRC BG RM B3-4207
10 CENTER DR
BETHESDA MD 20892
(240) 669-5776
parker.ruhl@nih.gov

Mary J. Jackson, R.N.
National Institute of Allergy and Infectious Diseases (NIAID)
Malaria Genetics Section
Building 10-CRC, Room B3-420, NIAID/NIH
Bethesda, MD 20814
(301) 761-5667
alpha.study@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT02692872

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