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

About the 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.

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: 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.

Study point of contact

Mary J Jackson, R.N.
(240) 292-4690
[email protected]

Locations

1 United States site

Age

18 to 70 Years

Study type

Observational

Gender

All

Compensation

Unknown

participation requirements

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,
adipose tissue, bronchial brushing, and/or BAL samples.

5. Willing to allow genetic testing on collected biological samples.

PARTICIPANT

participation restrictions

– Exclusion Criteria for Saliva Sample Collection Only

Any condition that, in the opinion of the principal investigator (PI), contraindicates
participation in this study, will be cause for exclusion. However, there are no explicit
exclusion criteria for the collection of saliva samples only.

-Exclusion Criteria for All Other Participants

The following exclusion criteria apply to all participants who will provide any of the
following samples in-person at the NIH CC: urine, blood, adipose tissue, bronchial
brushing, and/or BAL samples:

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. -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. 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. 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. 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 lidocaine or other local anesthetics. 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 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. Co-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.

Locations

  • Bethesda, Maryland, United States, National Institutes of Health Clinical Center, 20892 [Recruiting]
Last updated 2021-09-18