Working… Menu

Genetic Analysis of Gray Platelet Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00069680
Recruitment Status : Completed
First Posted : September 30, 2003
Last Update Posted : October 22, 2018
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief Summary:

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

Condition or disease
Genetic Linkage Myelofibrosis

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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 123 participants
Official Title: Genetic Analysis of Gray Platelet Syndrome
Study Start Date : September 29, 2003
Study Completion Date : May 17, 2018

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   1 Year to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00069680

Layout table for location information
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Layout table for investigator information
Principal Investigator: Meral Gunay-Aygun, M.D. National Human Genome Research Institute (NHGRI)
Publications automatically indexed to this study by Identifier (NCT Number):
Layout table for additonal information
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00069680    
Other Study ID Numbers: 030313
First Posted: September 30, 2003    Key Record Dates
Last Update Posted: October 22, 2018
Last Verified: May 17, 2018
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Gene Identification
Linkage Analysis
Homozygosity Mapping
Gray Platelet Syndrome
Platelet Function Defect
Bleeding Disorder
Additional relevant MeSH terms:
Layout table for MeSH terms
Gray Platelet Syndrome
Hematologic Diseases
Blood Platelet Disorders
Blood Coagulation Disorders, Inherited
Genetic Diseases, Inborn