Collecting biological samples to study blood disorders

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

This study is collecting samples from people with blood disorders and healthy volunteers to see how certain genetic factors affect these conditions and overall health.

Quick facts

• Study type: Observational
• Enrollment: 300 (estimated)
• Ages: 18 Years to 70 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT03937817 on ClinicalTrials.gov

What this trial studies

This observational study aims to collect human biospecimens from individuals with blood disorders such as alpha and beta thalassemia and sickle cell disease, as well as healthy volunteers. Participants aged 18-70 will undergo screening and provide various biological samples, including saliva, urine, blood, and fat samples, over a period of five years. The collected specimens will be used to develop laboratory assays and further research into the roles of globin variants in relation to these blood disorders and their impact on human physiology.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18-70 with blood disorders or healthy volunteers without blood disorders.

Not a fit: Patients who are pregnant or have active infections such as hepatitis B, hepatitis C, or HIV may not benefit from this study.

Why it matters

Potential benefit: If successful, this research could lead to a better understanding of blood disorders and improved diagnostic and therapeutic strategies.

How similar studies have performed: Other studies have successfully utilized similar approaches to collect biospecimens for research into blood disorders, indicating a promising avenue for this type of investigation.

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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: Hans C Ackerman, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
• Study coordinator: Mary J Jackson, R.N.

Conditions Alpha and Beta Thalassemia; Sickle Cell Disease; Malaria; Human Physiology; Assay Development; Natural History