Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants

NCT03937817 | Recruiting

• 2 other identifiers: 19009319-I-0093
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders. To do this, they need to collect biological samples from people with blood disorders. They also need to collect samples from healthy people. Objective: To collect samples to use for research on blood disorders. Eligibility: People ages 18-70 who have blood disorders. Healthy volunteers without blood disorders are also needed. Design: Participants will be screened with a medical history, physical exam, and blood and urine tests. Participants will give one or more samples. They will give them over 5 years. They can choose not to give any of the samples: Saliva: Participants will spit into a tube. They may also have the inside of their mouth swabbed. Urine: Participants will urinate into a cup. Blood and blood waste products: Blood will be taken through a needle in the participant s arm. Fat samples: An area on the participant s belly or buttock will be numbed. A small cut will be made into the skin and a small piece of fat removed. Mucus and cells from the lungs: The participant will be sedated. A flexible tube will be inserted through the nose or mouth into the lung airways. These participants will also have a physical exam, chest x-ray, and heart tests after the procedure.

Conditions

Alpha and Beta Thalassemia; Sickle Cell Disease; Malaria; Human Physiology

Keywords

Assay Development; Malaria; Sickle Cell Disease; Alpha and Beta Thalassemia; Natural History

Outcome Measures

Primary Outcomes (1)

• Collect biological specimens (saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL)

  Development and optimization of scientific assays and research of globin variants, sickle cell disease, malaria, or other related diseases.

  Throughout study

Study Arms (1)

1

Healthy volunteers and patients with hematologic and hemolytic diseases, including alpha and beta globin variants, sickle cell disease, malaria, or other diseases involving inflammation or endothelial dysfunction.

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants may be recruited from other NIH protocols, the NIH Clinical Research Healthy Volunteer Program, patient recruitment websites for the National Heart, Lung, and Blood Institute, community outreach, ResearchMatch, and clinicaltrials.gov.

You may qualify if:

• Aged 18-70 years.
• Able to provide informed consent.
• Willing to allow biological samples to be stored for future research.
• Willing to provide one or more of the following tissues: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples.
• Willing to allow genetic testing on collected biological samples.

You may not qualify if:

• Pregnancy.
• Positive testing for hepatitis B virus, hepatitis C virus, or HIV (as determined by serum screening tests or relevant viral quantitative studies.)
• Any condition that requires active medical intervention or monitoring to avert serious danger to the individual s health or wellbeing.
• Any condition that, in the opinion of the PI, contraindicates participation in this study.
• \. Hemoglobin \< 10 g/dL for healthy female volunteers, \< 12 g/dL for healthy male volunteers, or \< 6 g/dL for participants with sickle cell disease or other chronic anemias.
• Individuals meeting any of the following criteria will be excluded from undergoing adipose tissue biopsy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.
• Currently taking anticoagulation medication.
• Platelets \< 100,000/microL.
• History of keloid formation (or irregular fibrous tissue formed at the site of a scar or injury).
• History of adverse reactions to lidocaine or other local anesthetics.
• Any condition that, in the opinion of the PI, contraindicates this procedure.
• Use of aspirin (or acetylsalicylic acid) and nonsteroidal anti-inflammatory drugs (NSAIDs) are permitted.
• Individuals meeting any of the following criteria will be excluded from undergoing bronchoscopy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.
• Prothrombin time (PT) \> 1 second above the upper limit of normal (ULN) or international normalized ratio \> 1.3.
• Partial thromboplastin time (PTT) \> 1 second above ULN.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• 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. doi: 10.1056/NEJM198202043060504.

  PMID: 6172710 BACKGROUND

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

  PMID: 25390741 BACKGROUND

• 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 alpha regulates nitric oxide signalling. Nature. 2012 Nov 15;491(7424):473-7. doi: 10.1038/nature11626. Epub 2012 Oct 31.

  PMID: 23123858 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

beta-Thalassemia; Anemia, Sickle Cell; Malaria

Condition Hierarchy (Ancestors)

Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Protozoan Infections; Parasitic Diseases; Infections; Mosquito-Borne Diseases; Vector Borne Diseases

Study Officials

• Hans C Ackerman, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mary J Jackson, R.N.

CONTACT

(301) 761-5667; alpha.study@nih.gov

Hans C Ackerman, M.D.

CONTACT

(301) 761-5646; hans.ackerman@nih.gov

Study Design

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

Study Record Dates

• First Submitted: May 3, 2019
• First Posted: May 6, 2019
• Study Start: September 25, 2019
• Primary Completion (Estimated): March 31, 2029
• Study Completion (Estimated): March 31, 2029
• Last Updated: May 1, 2026

Record last verified: 2026-02-11

Locations

US (1)