Genetic Analysis of Gray Platelet Syndrome

October 19, 2018 updated by: National Human Genome Research Institute (NHGRI)

This study will identify and characterize the gene or genes responsible for Gray Platelet syndrome (GPS). Platelets are small blood cells that stick on injured blood vessels to form a plug and stop bleeding. When a blood vessel is injured (like a cut on a finger), platelets release the proteins stored in their sacs to help form a blood clot. Patients with GPS bleed longer than other people because their platelets lack some of these protein-carrying sacs. Platelets without sacs look pale gray under the microscope rather than pink, giving the syndrome its name. Except for rare patients with severe hemorrhage, the bleeding tendency in GPS is usually mild to moderate, with patients experiencing easy bruising, nosebleeds, and, in women, excessive menstrual bleeding.

Patients with GPS and members of their family with GPS may be eligible for this study. Participants will provide a personal and family medical history and will have blood drawn. About 1 to 2 tablespoons of blood will be drawn in adults, and about 1 teaspoon in children. The blood will be analyzed for genes that cause GPS

Study Overview

Status

Completed

Conditions

Detailed Description

Patients with Gray Platelet Syndrome (GPS) and their unaffected family members will be studied to identify the gene(s) involved in GPS using linkage analysis and gene mapping strategies. Up to 200 individual members of GPS families will be investigated to identify candidate regions of the human genome, which will be further studied using fine mapping and sequence analysis. Characterization of gene(s) involved in GPS could provide important insight into the mechanisms of vesicle formation and protein sorting in human cells.

Study Type

Observational

Enrollment (Actual)

123

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

Enrollment in this study will be limited to patients diagnosed with GPS and their unaffected relatives. The diagnosis will be based upon absence or marked reduction of platelet Alpha-granules on electron microscopy.

EXCLUSION CRITERIA:

Patients with reduction in both Alpha and Beta granules will be excluded, since this is probably a separate disease.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Investigators

  • Principal Investigator: Meral Gunay-Aygun, M.D., National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 29, 2003

Study Completion

May 17, 2018

Study Registration Dates

First Submitted

September 29, 2003

First Submitted That Met QC Criteria

September 29, 2003

First Posted (Estimate)

September 30, 2003

Study Record Updates

Last Update Posted (Actual)

October 22, 2018

Last Update Submitted That Met QC Criteria

October 19, 2018

Last Verified

May 17, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 030313
  • 03-HG-0313

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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