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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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.

Detailed Summary: 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.
Sponsor: Rockefeller University

Current Primary Outcome: Platelet aggregation [ Time Frame: minutes ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Rockefeller University

Dates:
Date Received: September 28, 2005
Date Started: September 2005
Date Completion: June 2019
Last Updated: August 18, 2016
Last Verified: August 2016