Understanding inherited blood disorders and their genetic basis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Rockefeller University Hospital
  New York, New York, United States Recruiting

Study contacts

• Principal investigator: Barry Coller, MD — Rockefeller University
• Study coordinator: Recruitment Specialist
• Email: rucares@rockefeller.edu
• Phone: 1-800-782-2737

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Eptacog beta to treat and prevent serious bleeding in Glanzmann thrombasthenia

  This will test whether eptacog beta can stop acute bleeds and help prevent serious bleeding in people with Glanzmann thrombasthenia who have a severe bleeding history.

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• ATHNdataset registry for people with bleeding and clotting disorders

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  Recruiting American Thrombosis and Hemostasis Network · Hickory, North Carolina · NCT06820515

• Using videomicroscopy to predict bleeding risk in patients with bleeding disorders

  This study is testing if a new way to look at tiny blood vessels under the tongue can help predict bleeding risks in adults with von Willebrand disease and Glanzmann thrombasthenia.

  Recruiting University Hospital, Lille · Lille, Nord · NCT04119908

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.