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Genetic Analysis of Gray Platelet Syndrome
This study is currently recruiting participants.
Verified by National Institutes of Health Clinical Center (CC), September 2008
Sponsored by: National Human Genome Research Institute (NHGRI)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00069680
  Purpose

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
Genetic Linkage
Myelofibrosis

MedlinePlus related topics: Spleen Diseases
U.S. FDA Resources
Study Type: Observational
Official Title: Genetic Analysis of Gray Platelet Syndrome

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 200
Study Start Date: September 2003
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.

  Eligibility

Ages Eligible for Study:   1 Year to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • 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.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00069680

Contacts
Contact: Patient Recruitment and Public Liaison Office (800) 411-1222 prpl@mail.cc.nih.gov
Contact: TTY 1-866-411-1010

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

NIH Clinical Center Detailed Web Page  This link exits the ClinicalTrials.gov site

Publications:
Study ID Numbers: 030313, 03-HG-0313
Study First Received: September 29, 2003
Last Updated: October 16, 2008
ClinicalTrials.gov Identifier: NCT00069680  
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Gene Identification
Linkage Analysis
Homozygosity Mapping
Gray Platelet Syndrome
GPS
Platelet Function Defect
Bleeding Disorder

Study placed in the following topic categories:
Myeloid Metaplasia
Myelofibrosis-osteosclerosis
Lymphatic Diseases
Gray platelet syndrome
Myelofibrosis
Hematologic Diseases
Metaplasia
Myeloproliferative Disorders
Bone Marrow Diseases
Hemorrhage

Additional relevant MeSH terms:
Pathologic Processes
Disease
Syndrome
Splenic Diseases

ClinicalTrials.gov processed this record on January 30, 2009