Alpha and Beta ThalassemiaNCT03937817
Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants
An observational study of Alpha and Beta Thalassemia and Sickle Cell Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Alpha and Beta Thalassemia, Sickle Cell Disease, Malaria
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Sep 2019to 31 Mar 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
None listed.
Who cannot join
- The following exclusion criteria apply to all participants who will provide any of the following samples in-person at the NIH CC: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples:
- 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.
- Additional Exclusion Criteria for Individuals Giving Blood for Research
Show all 33Show fewer
- 1. 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.
- -Additional Exclusion Criteria for Adipose Tissue Biopsy
- 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.
- -Additional Exclusion Criteria for Bronchoscopy
- 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.
- Platelets < 150,000/microL.
- Currently taking anticoagulation medication.
- Use of aspirin within 2 weeks of the bronchoscopy or NSAIDs within 2 days of the bronchoscopy.
- Diagnosis of a pulmonary disorder (eg, asthma, chronic bronchitis, cystic fibrosis, or bronchiectasis).
- Respiratory tract infection within the last 4 weeks.
- History of adverse reactions to systemic and/or local anesthetics that will be used for this procedure.
- History of cigarette smoking within the past 3 months.
- History of chronic opioid use.
- History of drug or alcohol abuse.
- Post-bronchodilator forced expiratory volume in 1 second (FEV1) < 40% of predicted or pre-bronchodilator FEV1 < 35% of predicted.
- Active bronchospasm on physical examination.
- History of lidocaine allergy.
- Any condition that, in the opinion of the PI, contraindicates this procedure.
- Co-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read more
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.
Read the detailed description
The Physiology Unit of the Laboratory of Malaria and Vector Research studies the role of globin variants in erythroid and non-erythroid tissues. We hope to better understand the mechanism(s) through which alpha and beta globin variants impact malaria, sickle cell disease, or other diseases involving inflammation or vascular endothelial dysfunction.
The collection of human specimens from healthy volunteers and patients with malaria, sickle cell disease, or other diseases involving inflammation or endothelial dysfunction is necessary for the development of laboratory and physiological assays to further basic and clinical research studies. This protocol defines the purposes for which specimens will be collected and establishes general conditions under which sample collection will be performed. Development of assays and our research into the roles of alpha and beta globin in normal human physiology, as well as in the pathogenesis of malaria and sickle cell disease, requires laboratory analysis of saliva/buccal swab, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or bronchoalveolar lavage specimens from human volunteers.
- Keywords
- Assay Development, Malaria, Sickle Cell Disease, Alpha and Beta Thalassemia, Natural History
- Medical subject headings
- beta-Thalassemia, Anemia, Sickle Cell, Malaria
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Throughout study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2019
- Study start25 Sep 2019
- Primary completion31 Mar 2029 (estimated)
- Study completion31 Mar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Alpha and Beta ThalassemiaStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Hans C Ackerman, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03937817
- Sponsor's protocol ID
- 190093
- Other IDs
- 19-I-0093
- Status last verified
- 19 Aug 2026
- First submitted
- 3 May 2019
- Last updated
- 2 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: This protocol is not a clinical trial and has no intervention. We do not currently have a plan to share individual participant data (IPD). The IRB-approved data sharing plan in our protocol is as follows: "Identified human data generated in this study will be shared for future research in the Biomedical Translational Research Information System (automatic for activities in the CC). De-identified data may also be shared with outside collaborators under appropriate agreements."
Publications
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.
PubMed 6172710Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.
PubMed 25390741Straub 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.
PubMed 23123858
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants
- ClinicalTrials.gov ID
- NCT03937817
- Acronym / sponsor ID
- 190093
- Keywords
- Assay Development, Malaria, Sickle Cell Disease, Alpha and Beta Thalassemia, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 25 Sep 2019 (actual)
- Primary completion
- 31 Mar 2029 (estimated)
- Study completion
- 31 Mar 2029 (estimated)
- First posted
- 6 May 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The Physiology Unit of the Laboratory of Malaria and Vector Research studies the role of globin variants in erythroid and non-erythroid tissues. We hope to better understand the mechanism(s) through which alpha and beta globin variants impact malaria, sickle cell disease, or other diseases involving inflammation or vascular endothelial dysfunction.
The collection of human specimens from healthy volunteers and patients with malaria, sickle cell disease, or other diseases involving inflammation or endothelial dysfunction is necessary for the development of laboratory and physiological assays to further basic and clinical research studies. This protocol defines the purposes for which specimens will be collected and establishes general conditions under which sample collection will be performed. Development of assays and our research into the roles of alpha and beta globin in normal human physiology, as well as in the pathogenesis of malaria and sickle cell disease, requires laboratory analysis of saliva/buccal swab, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or bronchoalveolar lavage specimens from human volunteers.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (0 listed)
Key exclusion criteria (33 listed)
- The following exclusion criteria apply to all participants who will provide any of the following samples in-person at the NIH CC: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples:
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Collect biological specimens (saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL)
Time frame: Throughout study
Development and optimization of scientific assays and research of globin variants, sickle cell disease, malaria, or other related diseases.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Background: PubMed 6172710Embury 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.
- Background: PubMed 25390741Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014 Nov 13;371(20):1908-16. doi: 10.1056/NEJMra1404415.
- Background: PubMed 23123858Straub 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. This protocol is not a clinical trial and has no intervention. We do not currently have a plan to share individual participant data (IPD). The IRB-approved data sharing plan in our protocol is as follows: "Identified human data generated in this study will be shared for future research in the Biomedical Translational Research Information System (automatic for activities in the CC). De-identified data may also be shared with outside collaborators under appropriate agreements."
Related trials for Alpha and Beta Thalassemia
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A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT)
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A Study Evaluating the Efficacy and Safety of Mitapivat in Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT)
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A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With α- or β-Non-Transfusion-Dependent Thalassemia
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RecruitingPhase 2
AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Hans C Ackerman, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alpha and Beta Thalassemia and Sickle Cell Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 33 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Mary J Jackson, R.N. ((301) 761-5667, alpha.study@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collect biological specimens (saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL) (time frame: Throughout study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03937817, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.