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

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorRockefeller University

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Normal healthy volunteers

18 years of age or older

Either sex

Any ethnic background.

Disqualifiers

For studies of platelets that may be affected by anti-platelet therapy, ingestion of aspirin or similar medication in the past week.

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.

Having given blood in the past week such that this donation would result in more than 2 donations in one week.

For studies of platelets that may be affected by antiplatelet therapy, ingestion of aspirin or similar medication in the past week

Trial 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.

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

60 Participants
are grouped into 2 trial groups
Group A: Normal
Group B: Glanzmann thrombasthenia

Trial outcomes

Primary outcomes

1

Platelet aggregation

The initial slope of the increase in light transmission after an agonist is added to a cuvette containing platelet-rich plasma.

Time frame
minutes

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Rockefeller University

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Collaborator