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

This study is currently recruiting participants.
Verified September 2017 by Rockefeller University
Sponsor:
ClinicalTrials.gov Identifier:
NCT00230165
First Posted: September 30, 2005
Last Update Posted: September 8, 2017
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.
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Rockefeller University
  Purpose

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
Glanzmann Thrombasthenia

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Rockefeller University:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 60
Study Start Date: September 2005
Estimated Study Completion Date: June 2019
Estimated Primary Completion Date: June 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
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, end stage renal disease, sickle cell disease or related disorders, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation

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.
  Eligibility

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.


Ages Eligible for Study:   Child, Adult, Senior
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 sickle cell disease and cardiovascular disease associated with increased intravascular shear forces are recruited from physicians in the New York area who care for such patients. 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

Normal Volunteers Inclusion criteria: Normal, healthy volunteers 18 years of age or older of either sex and any ethnic background.

Exclusion criteria: 1. For studies of platelets that may be affected by antiplatelet 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, end stage renal disease, sickle cell disease or related disorders, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation (including von Willebrand disease), and patients with diseases associated with increased intravascular shear forces (e.g., obstructive coronary disease, aortic stenosis, and coarctation of the aorta).

Inclusion criteria: Adults and children of either sex and any ethnic background.

Exclusion criteria: 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
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
Contact: Barry Coller, MD 212-327-7490 collerb@rockefeller.edu

Locations
United States, New York
Rockefeller University Hospital Recruiting
New York, New York, United States, 10021
Contact: Barry Coller, MD    212-327-7490      
Principal Investigator: Barry Coller, MD         
Sponsors and Collaborators
Rockefeller University
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Barry Coller, MD Rockefeller University
  More Information

Additional Information:
Responsible Party: Rockefeller University
ClinicalTrials.gov Identifier: NCT00230165     History of Changes
Other Study ID Numbers: BCO-0417/0726
5R01HL019278-39 ( U.S. NIH Grant/Contract )
First Submitted: September 28, 2005
First Posted: September 30, 2005
Last Update Posted: September 8, 2017
Last Verified: September 2017

Keywords provided by Rockefeller University:
Platelets
Erythrocytes
Leukocytes
Coagulation
Thrombosis

Additional relevant MeSH terms:
Thrombasthenia
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Blood Platelet Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn