ClinicalTrials.gg
RecruitingNCT00230165Updated Oct 20, 2025

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

An observational study in Glanzmann Thrombasthenia, sponsored by Rockefeller University. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2025-10-20.

Sponsored by Rockefeller University · Observational

Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
60
Sex
All
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Study 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.

Read the detailed description

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.

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Conditions studied

  • Glanzmann Thrombasthenia

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Keywords

  • Platelets
  • Erythrocytes
  • Leukocytes
  • Coagulation
  • Thrombosis
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In context

Thrombosis

955 studies on the registry are indexed under Thrombosis; 171 are open to participants now.

This study's planned enrollment of 60 is below the median of 173 across 384 observational studies indexed under Thrombosis.

Browse Thrombosis studies →

Lead sponsor

Rockefeller University is the lead sponsor of 123 studies on the registry; 3 are open to participants now.

Of its 14 completed or terminated interventional studies of FDA-regulated products, 6 (43%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
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.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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 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

Exclusion Criteria:

A. Normal Healthy Volunteers:

  1. For studies of 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.
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Platelets

Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.

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Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
60 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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

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What researchers measure

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.

    Time frame: minutes

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Study locations

1 of 1 sites recruiting
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References and documents

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Oct 20, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00230165
Responsible party
Sponsor
First posted
Sep 30, 2005
Start date
Sep 2005
Primary completion
Jun 2030 (estimated)
Completion
Jun 2030 (estimated)
Last update
Oct 20, 2025

Study contacts

Recruitment Specialist
Contact
rucares@rockefeller.edu
1-800-782-2737
Barry Coller, MD
principal investigator · Rockefeller University

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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