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

Description

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

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Alpha and Beta Thalassemia
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Aged 18-70 years.
  • 2. Able to provide informed consent.
  • 3. Willing to allow biological samples to be stored for future research.
  • 4. Willing to provide one or more of the following tissues: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples.
  • 5. Willing to allow genetic testing on collected biological samples.
  • * Exclusion Criteria for All Participants
  • 1. Pregnancy.
  • 2. Positive testing for hepatitis B virus, hepatitis C virus, or HIV (as determined by serum screening tests or relevant viral quantitative studies.)
  • 3. Any condition that requires active medical intervention or monitoring to avert serious danger to the individual s health or wellbeing.
  • 4. Any condition that, in the opinion of the PI, contraindicates participation in this study.
  • * Additional Exclusion Criteria for Individuals Giving Blood for Research
  • 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.
  • 1. Currently taking anticoagulation medication.
  • 2. Platelets \< 100,000/microL.
  • 3. History of keloid formation (or irregular fibrous tissue formed at the site of a scar or injury).
  • 4. History of adverse reactions to lidocaine or other local anesthetics.
  • 5. Any condition that, in the opinion of the PI, contraindicates this procedure.
  • 1. Prothrombin time (PT) \> 1 second above the upper limit of normal (ULN) or international normalized ratio \> 1.3.
  • 2. Partial thromboplastin time (PTT) \> 1 second above ULN.
  • 3. Platelets \< 150,000/microL.
  • 4. Currently taking anticoagulation medication.
  • 5. Use of aspirin within 2 weeks of the bronchoscopy or NSAIDs within 2 days of the bronchoscopy.
  • 6. Diagnosis of a pulmonary disorder (eg, asthma, chronic bronchitis, cystic fibrosis, or bronchiectasis).
  • 7. Respiratory tract infection within the last 4 weeks.
  • 8. History of adverse reactions to systemic and/or local anesthetics that will be used for this procedure.
  • 9. History of cigarette smoking within the past 3 months.
  • 10. History of chronic opioid use.
  • 11. History of drug or alcohol abuse.
  • 12. Post-bronchodilator forced expiratory volume in 1 second (FEV1) \< 40% of predicted or pre-bronchodilator FEV1 \< 35% of predicted.
  • 13. Active bronchospasm on physical examination.
  • 14. History of lidocaine allergy.
  • 15. Any condition that, in the opinion of the PI, contraindicates this procedure.

Ages Eligible for Study

18 Years to 70 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Institute of Allergy and Infectious Diseases (NIAID),

Hans C Ackerman, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Allergy and Infectious Diseases (NIAID)

Study Record Dates

2029-03-31