Genetic Analysis of Gray Platelet Syndrome

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00069680
First received: September 29, 2003
Last updated: July 24, 2014
Last verified: July 2014
  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

Study Type: Observational
Official Title: Genetic Analysis of Gray Platelet Syndrome

Resource links provided by NLM:


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

Enrollment: 123
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
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, see Learn About Clinical Studies.

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

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Meral Gunay-Aygun, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
ClinicalTrials.gov Identifier: NCT00069680     History of Changes
Other Study ID Numbers: 030313, 03-HG-0313
Study First Received: September 29, 2003
Last Updated: July 24, 2014
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

Additional relevant MeSH terms:
Gray Platelet Syndrome
Primary Myelofibrosis
Syndrome
Blood Coagulation Disorders, Inherited
Blood Platelet Disorders
Bone Marrow Diseases
Disease
Genetic Diseases, Inborn
Hematologic Diseases
Myeloproliferative Disorders
Pathologic Processes

ClinicalTrials.gov processed this record on October 23, 2014