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

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ClinicalTrials.gov Identifier: NCT03937817
Recruitment Status : Recruiting
First Posted : May 6, 2019
Last Update Posted : May 7, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Tracking Information
First Submitted Date May 3, 2019
First Posted Date May 6, 2019
Last Update Posted Date May 7, 2021
Actual Study Start Date September 25, 2019
Estimated Primary Completion Date March 31, 2029   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 3, 2019)
Collect biological specimens (saliva, urine, blood, adipose tissue, bronchial brushing, and /or BAL) [ Time Frame: Throughout study ]
Development and optimization of scientific assays and research of alpha thalassemia, malaria, sickle cell disease, or other related diseases.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Collection of Human Biospecimens for Basic and Clinical Research Into Alpha Globin Variants
Official Title Collection of Human Biospecimens for Basic and Clinical Research Into Alpha Globin Variants
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: 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

Our goal is to understand the function of alpha globin in both erythroid and non-erythroid tissues. We hope to better understand the mechanism(s) through which alpha globin deletions protect against malaria, sickle cell disease or other diseases involving inflammation or endothelial dysfunction.

The Physiology Unit of the Laboratory of Malaria and Vector Research studies the role of alpha globin in erythroid and non-erythroid tissues. 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 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, adipose tissue, bronchial brushing, and/or bronchoalveolar lavage specimens from human volunteers.

Study Type Observational
Study Design Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Participants may be recruited from other NIH protocols, the NIH Clinical Research Healthy Volunteer Program, patient recruitment websites for the National Heart, Lung, and Blood Institute, community outreach, ResearchMatch, and clinicaltrials.gov.
Condition
  • Alpha Thalassemia
  • Sickle Cell Disease
  • Malaria
  • Human Physiology
Intervention Not Provided
Study Groups/Cohorts 1
Healthy volunteers and patients with hemolytic diseases, including sickle cell disease andmalaria, or other diseases involving inflammation or endothelial dysfunction.
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 3, 2019)
300
Original Estimated Enrollment Same as current
Estimated Study Completion Date March 31, 2029
Estimated Primary Completion Date March 31, 2029   (Final data collection date for primary outcome measure)
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, adipose tissue, bronchial brushing, and/or BAL samples.
    5. Willing to allow genetic testing on collected biological samples.

      PARTICIPANT EXCLUSION CRITERIA:

  • 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.

Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years to 70 Years   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Mary J Jackson, R.N. (240) 292-4690 jacksonmj@nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03937817
Other Study ID Numbers 190093
19-I-0093
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
Study Sponsor National Institute of Allergy and Infectious Diseases (NIAID)
Collaborators Not Provided
Investigators
Principal Investigator: Amy P Ruhl, M.D. National Heart, Lung, and Blood Institute (NHLBI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date May 4, 2021