Expired Study
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Bethesda, Maryland 20892


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 summary:

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.


- 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 is Available At:

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Secondary ID:


Study Acronym:

Brief Title:

Genetic Analysis of Gray Platelet Syndrome

Official Title:

Genetic Analysis of Gray Platelet Syndrome

Overall Status:


Study Phase:




Minimum Age:

1 Year

Maximum Age:

80 Years

Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

National Institutes of Health Clinical Center (CC)

Oversight Authority:

United States: Federal Government

Reasons Why Stopped:

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Study Design:

Number of Arms:


Number of Groups:


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Overall Contact Information

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

Study Dates

Start Date:September 29, 2003
Completion Date:May 17, 2018
Verification Date:May 17, 2018
Last Changed Date:October 10, 2018
First Received Date:September 29, 2003

Study Outcomes

There are no available Study Outcomes

Study Interventions

There are no available Study Interventions

Study Arms

There are no available Study Arms

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:National Human Genome Research Institute (NHGRI)

Sample and Retention Information

There are no available Sample and Retention Information

Study References

Reference Type:Reference
Citation:Raccuglia G. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med. 1971 Dec;51(6):818-28.
Reference Type:Reference
Citation:White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol. 1979 May;95(2):445-62.
Reference Type:Reference
Citation:Levy-Toledano S, Caen JP, Breton-Gorius J, Rendu F, Cywiner-Golenzer C, Dupuy E, Legrand Y, Maclouf J. Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. J Lab Clin Med. 1981 Dec;98(6):831-48.

Data Source: ClinicalTrials.gov

Date Processed: November 18, 2019

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