The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.
| Status: | Recruiting |
|---|---|
| Conditions: | Hematology |
| Therapuetic Areas: | Hematology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 12/27/2018 |
| Start Date: | September 2005 |
| End Date: | June 2020 |
| Contact: | Barry Coller, MD |
| Email: | collerb@rockefeller.edu |
| Phone: | 212-327-7490 |
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
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.
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.
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.
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.
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.
We found this trial at
1
site
New York, New York 10021
Principal Investigator: Barry Coller, MD
Phone: 212-327-7490
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