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

Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · May 3, 2019

Keywords

ClinConnect Summary

This clinical trial is focused on collecting samples from individuals with blood disorders, such as sickle cell disease and thalassemia, as well as healthy volunteers. The aim is to gather biological samples to help researchers better understand these conditions and potentially find improved treatments. If you are between the ages of 18 and 70 and are either living with a blood disorder or are a healthy individual, you might be eligible to participate.

As a participant, you will go through a screening process that includes a medical history check and some basic tests. Over the next five years, you can provide various samples, including saliva, urine, blood, and fat tissue. You will have the option to decide how many samples you want to give, and you can withdraw from the study at any time. Your participation will contribute to important research that could help others affected by blood disorders in the future.

Gender

ALL

Eligibility criteria

• * PARTICIPANT INCLUSION 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.
• 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:
• • 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.
• • 5. 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.
• • 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.
• • Co-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.