Ignite Creation Date:
2024-05-05 @ 11:31 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00069680
Status:
COMPLETED
Last Update Posted:
2018-10-22
First Post:
2003-09-29
Brief Title:
Genetic Analysis of Gray Platelet Syndrome
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Analysis of Gray Platelet Syndrome
Status:
COMPLETED
Status Verified Date:
2018-05-17
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
Patients with Gray Platelet Syndrome GPS and their unaffected family members will be studied to identify the genes 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 genes involved in GPS could provide important insight into the mechanisms of vesicle formation and protein sorting in human cells
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-HG-0313 | None | None | None |