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| Name | Class |
|---|---|
| CSL Behring | INDUSTRY |
| University of Pennsylvania | OTHER |
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To collect and analyze data on females with hemophilia so as to better define the difference between the study population and the male population with hemophilia.
This study is designed as an epidemiological study with retrospective clinical and genetic data collection and prospective quality of life (QOL) data collections and genotyping of subjects without current molecular diagnosis. Data on the genetic/chromosomal etiology of the condition will be collected through chart review. For those subjects who have not had molecular or cytogenetic analysis, molecular and cytogenetic testing will be offered after genetic counseling. Those subjects who agree to have genetic testing will have 5-10 ml of blood drawn and sent to the cytogenetic laboratory at Weill Cornell Medical College for testing to determine the chromosomal complement, and 5 ml of blood sent to Dr. Arupa Ganguly at the University of Pennsylvania for the identification of a factor VIII or factor IX mutation, and X-chromosome inactivation studies.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Females with Hemophilia | Females with severe or moderate Hemophilia A or B. |
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| Measure | Description | Time Frame |
|---|---|---|
| The prevalence of females with severe or moderate hemophilia A or B in the United States. | Study Duration |
| Measure | Description | Time Frame |
|---|---|---|
| Collect existing data on the genetic and/or chromosomal causes for severe and moderate hemophilia A and B in females in the United States. | Study Duration | |
| To determine the natural history of hemophilia in females by collecting and analyzing data on the symptoms, treatment patterns, and complications of hemophilia in this cohort. |
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Inclusion Criteria:
Exclusion Criteria:
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Females with severe or moderate (less than 5%) hemophilia A or B.
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| Name | Affiliation | Role |
|---|---|---|
| William B Mitchell, MD | Weill Medical College of Cornell University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| City of Hope National Medical Center | Duarte | California | 91010 | United States | ||
| Mountain States Regional Hemophilia and Thrombosis Center |
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| Study Duration |
| Collect and analyze data on the health-related quality of life and psychosocial adaptation to disease of females in the United States. | Study Duration |
| Aurora |
| Colorado |
| 80045 |
| United States |
| Georgetown University Hospital | Washington D.C. | District of Columbia | 20007 | United States |
| Emory University Hemophilia Program Office | Atlanta | Georgia | 30322 | United States |
| Northwestern University | Chicago | Illinois | 60611 | United States |
| University of Kentucky Hemophilia Treatment Center | Lexington | Kentucky | 40536 | United States |
| Boston Hemophilia Center- Children's Hospital | Boston | Massachusetts | 02115 | United States |
| Henry Ford Hospital Adult Hemophilia and Thrombosis Treatment Center | Detroit | Michigan | 48202 | United States |
| Newark Beth Israel Medical Center | Newark | New Jersey | 07112 | United States |
| Hemophilia Center of Western New York - Pediatric | Buffalo | New York | 14222 | United States |
| Long Island Jewish Medical Center | New Hyde Park | New York | 11040 | United States |
| Weill Cornell Medical College | New York | New York | 10065 | United States |
| Mary M. Gooley Hemophilia Center, Inc. | Rochester | New York | 14621 | United States |
| Children's Hospital Medical Center of Akron | Akron | Ohio | 44308 | United States |
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | United States |
| Oklahoma Center for Bleeding Disorders | Oklahoma City | Oklahoma | 73104 | United States |
| Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| Gulf States Hemophilia and Thrombophilia Center | Houston | Texas | 77030 | United States |
| Puerto Rico Hemophilia Treatment Center | San Juan | 00936 | Puerto Rico |
| ID | Term |
|---|---|
| D006467 | Hemophilia A |
| D002836 | Hemophilia B |
| ID | Term |
|---|---|
| D025861 | Blood Coagulation Disorders, Inherited |
| D001778 | Blood Coagulation Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D020147 | Coagulation Protein Disorders |
| D006474 | Hemorrhagic Disorders |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D040181 | Genetic Diseases, X-Linked |
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