Understanding inherited blood disorders and their genetic basis

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

This study is trying to understand the genetics behind inherited blood disorders like Glanzmann thrombasthenia by looking at the medical histories and blood tests of both healthy volunteers and patients.

Quick facts

• Study type: Observational
• Enrollment: 60 (estimated)
• Sex: All
• Sponsor: Rockefeller University (Academic / other)
• Locations: 1 site (New York, New York)
• Trial ID: NCT00230165 on ClinicalTrials.gov

What this trial studies

This observational study focuses on understanding the genetics and functional aspects of inherited blood disorders, particularly Glanzmann thrombasthenia, which affects platelet function. Participants, including healthy volunteers and patients with various blood disorders, undergo detailed medical histories, physical examinations, and blood tests to identify potential genetic abnormalities. The research aims to advance knowledge of platelet function and related blood disorders through advanced testing and genetic analysis. If abnormalities are found, participants may be advised to pursue further testing in certified laboratories.

Who should consider this trial

Good fit: Ideal candidates include individuals with Glanzmann thrombasthenia, their relatives, and healthy volunteers aged 18 and older.

Not a fit: Patients with acute blood disorders or those currently on anti-platelet therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and management of inherited blood disorders, enhancing patient care.

How similar studies have performed: Other studies have shown success in understanding genetic factors in blood disorders, making this approach both relevant and promising.

Eligibility criteria

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.

Where this trial is running

New York, New York

• Rockefeller University Hospital — New York, New York, United States (Recruiting)

Study contacts

• Principal investigator: Barry Coller, MD — Rockefeller University
• Study coordinator: Recruitment Specialist

Conditions Glanzmann Thrombasthenia; Platelets; Erythrocytes; Leukocytes; Coagulation; Thrombosis