NCT02692872

Screening for Alpha Thalassemia in Healthy Volunteers

Active, enrolled Last updated 6 April 2026

What this trial tests

trial in Alpha Thalassemia in 367 participants. Participants enrolled and being followed up; not accepting new ones.

Timeline

17 April 2017

Primary endpoint
31 December 2027

31 December 2027

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Active, enrolled
Study type	OBSERVATIONAL
Enrollment	367
Start date	17 April 2017
Primary completion	31 December 2027
Estimated completion	31 December 2027
Sites	1 location across United States

Conditions studied

• Alpha Thalassemia — all drugs for Alpha Thalassemia →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 18 to 39, any sex, with Alpha Thalassemia. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Sickle Trait and Alpha Thalassemia Increase NOS-Dependent Vasodilation of Human Arteries Through Disruption of Endothelial Hemoglobin-eNOS Interactions.
   Brooks SD, Ruhl AP, Zeng X, Cruz P, et al · · 2025 · cited 3× · PMID 39633569 · DOI 10.1161/circulationaha.123.066003
2. Magnitude and variability of blood pressure and renal vascular conductance responses to postural changes, exercise, and cold in black adults: A pilot study.
   Ibrahim MH, McLure AJ, Jackson MJ, Harrison B, et al · · 2026 · PMID 42087563 · DOI 10.14814/phy2.70888