Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants
Overview
- Phase
- Not Applicable
- Intervention
- 1
- Conditions
- Alpha and Beta Thalassemia
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Collect biological specimens (saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL)
- Status
- Recruiting
- Last Updated
- yesterday
Overview
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.
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •PARTICIPANT INCLUSION CRITERIA:
- •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.
- •PARTICIPANT
Exclusion Criteria
- •Exclusion Criteria for All Participants
- •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:
- •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
- •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.
Arms & Interventions
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.
Outcomes
Primary Outcomes
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.