Recruiting

Genetic Disorders

Sponsor:

Rockefeller University

Code:

NCT00230165

Conditions

Glanzmann Thrombasthenia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT00230165

Start date

Sep, 2005

Status verified date

Oct, 2025

Completion date

Jun, 2030

Anticipated

Primary completion date

Jun, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

A. Normal Healthy Volunteers:

1. Normal healthy volunteers
2. 18 years of age or older
3. Either sex
4. 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):

1. Adults and children
2. Either sex
3. Any ethnic background

Exclusion Criteria:

A. Normal Healthy Volunteers:

1. For studies of platelets that may be affected by anti-platelet 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, inherited qualitative and/or quantitative platelet disorders, inherited disorders of white blood cells, inherited disorders of coagulation (including von Willebrand disease).

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.

Study Design

Enrollment

60 participants

Anticipated

Interventions and Outcome Measures

Arms

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

Primary outcome measure

  • Platelet aggregation [ Time Frame: minutes ]

Central Contacts and Locations

Central contacts

Locations

Rockefeller University Hospital

Recruiting

New York, New York, United States, 10021

Contacts

Principal Investigator:

Barry Coller, MD

More Information

Sponsor

Rockefeller University

Last update posted

Oct 20, 2025

Last verified

Oct, 2025

Keywords

  • Platelets
  • Erythrocytes
  • Leukocytes
  • Coagulation
  • Thrombosis

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Rockefeller University on 2025-10-20.