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

NCT00230165 | Recruiting

• 2 other identifiers: BCO-0417/07265R01HL019278-39
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

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.

Conditions

Glanzmann Thrombasthenia

Keywords

Platelets; Erythrocytes; Leukocytes; Coagulation; Thrombosis

Outcome Measures

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.

  minutes

Study Arms (2)

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• A. Normal Healthy Volunteers:
• Normal healthy volunteers
• years of age or older
• Either sex
• 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):
• Adults and children
• Either sex
• Any ethnic background

You may not qualify if:

• A. Normal Healthy Volunteers:
• 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.
• 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).
• For studies of platelets that may be affected by antiplatelet therapy, ingestion of aspirin or similar medication in the past week
• 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.
• 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.

Sponsors & Collaborators

• Rockefeller University: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

Rockefeller University Hospital

New York, New York, 10021, United States

RECRUITING

Related Links

• Link to clinical study description

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Thrombasthenia; Thrombosis

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Embolism and Thrombosis; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Barry Coller, MD

  Rockefeller University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Recruitment Specialist

CONTACT

1-800-782-2737; rucares@rockefeller.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 28, 2005
• First Posted: September 30, 2005
• Study Start: September 1, 2005
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030
• Last Updated: October 20, 2025

Record last verified: 2025-10

Locations

US (1)