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The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00230165
Recruitment Status : Recruiting
First Posted : September 30, 2005
Last Update Posted : July 6, 2022
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Rockefeller University

Study Description
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Brief Summary:

Blood contains red blood cells, white blood cells, and platelets, as well as a fluid portion termed plasma. We primarily study blood platelets, but sometimes we also analyze the blood of patients with red blood cell disorders (such as sickle cell disease), white blood cell disorders, and disorders of the blood clotting factors found in plasma.

Blood platelets are small cell fragments that help people stop bleeding after blood vessels are damaged. Some individuals have abnormalities in their blood platelets that result in them not functioning properly. One such disorder is Glanzmann thrombasthenia. Most such patients have a bleeding disorder characterized by nosebleeds, gum bleeding, easy bruising (black and blue marks), heavy menstrual periods in women, and excessive bleeding after surgery or trauma. Our laboratory performs advanced tests of platelet function and platelet biochemistry. If we find evidence that a genetic disorder may be responsible, we analyze the genetic material (DNA and RNA) from the volunteer, and when possible, close family members to identify the precise defect.


Condition or disease
Glanzmann Thrombasthenia

Detailed Description:
After volunteers and family members agree to participate, they are seen in the Outpatient Research Center by the Principal Investigator or another physician. A detailed history is obtained, a physical examination is performed, and blood is obtained for further tests. Occasionally patients and family members are requested to return for additional tests. If an abnormality is identified with tests conducted in our research laboratory, we advise the volunteer to have the studies repeated in a laboratory certified to conduct tests on patients.
Study Design
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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Studies of Interactions Among Normal and Abnormal Blood Cells, and the Vessel Wall, and Studies of Genetic and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell and Coagulation Disorders
Study Start Date : September 2005
Estimated Primary Completion Date : June 2023
Estimated Study Completion Date : June 2023

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Normal
Normal, healthy volunteers 18 years of age or older of either sex and any ethnic background
Glanzmann thrombasthenia
Patients with Glanzmann thrombasthenia or their relatives, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation


Outcome Measures
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Primary Outcome Measures :
  1. Platelet aggregation [ Time Frame: minutes ]
    The initial slope of the increase in light transmission after an agonist is added to a cuvette containing platelet-rich plasma.


Biospecimen Retention:   Samples With DNA
whole blood

Eligibility Criteria
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Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
For normal volunteers, we recruit from laboratory personnel and other volunteers from the NYC area. Patients with platelet disorders, coagulation disorders, or white blood cell disorders, are recruited from among patients referred by other physicians to the P.I. for assessment or via the internet.
Criteria

Inclusion Criteria:

A. Normal Healthy Volunteers:

  1. Normal healthy volunteers
  2. 18 years of age or older
  3. Either sex
  4. Any ethnic background.

B. Patients with Glanzmann thrombasthenia or their relatives, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation (including von Willebrand disease):

  1. Adults and children
  2. Either sex
  3. Any ethnic background

Exclusion Criteria:

A. Normal Healthy Volunteers:

  1. For studies of platelets that may be affected by anti-platelet therapy, ingestion of aspirin or similar medication in the past week.
  2. Having given blood in the last 8 weeks such that the current donation would exceed a total of 250 ml for the 8 week period.
  3. Having given blood in the past week such that this donation would result in more than 2 donations in one week.

B. Patients with Glanzmann thrombasthenia or their relatives, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation (including von Willebrand disease).

  1. For studies of platelets that may be affected by antiplatelet therapy, ingestion of aspirin or similar medication in the past week
  2. If the patient is known to have a hematocrit ≥25 (assay performed in past 3 months), the same blood drawing criteria as in A, with the addition that for children less than 18 years of age, the maximum amount of blood allowed to be donated in an 8 week period is the lesser of 50 ml or 3 ml/kg.
  3. If the patient has a hematocrit <25 or if the hematocrit is unknown, the blood drawing limit is the lesser of 20 ml or 1 ml/kg in any 8 week period.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00230165


Contacts
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Contact: Recruitment Specialist 1-800-782-2737 rucares@rockefeller.edu

Locations
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United States, New York
Rockefeller University Hospital Recruiting
New York, New York, United States, 10021
Contact: Recruitment Specialist    800-782-2737    rucares@rockefeller.edu   
Principal Investigator: Barry Coller, MD         
Sponsors and Collaborators
Rockefeller University
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
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Principal Investigator: Barry Coller, MD Rockefeller University
More Information
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Additional Information:

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Responsible Party: Rockefeller University
ClinicalTrials.gov Identifier: NCT00230165    
Other Study ID Numbers: BCO-0417/0726
5R01HL019278-39 ( U.S. NIH Grant/Contract )
First Posted: September 30, 2005    Key Record Dates
Last Update Posted: July 6, 2022
Last Verified: July 2022
Keywords provided by Rockefeller University:
Platelets
Erythrocytes
Leukocytes
Coagulation
Thrombosis
Additional relevant MeSH terms:
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Thrombasthenia
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
 Blood Platelet Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn