Females With Severe or Moderate Hemophilia A or B: A Multi-Center Study
- Conditions
- Hemophilia AHemophilia B
- Registration Number
- NCT00936845
- Lead Sponsor
- Weill Medical College of Cornell University
- Brief Summary
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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Female
- Target Recruitment
- 22
- Females with severe (FVIII<0.01u/dl) or moderate (FVIII-0.01<0.06 u/dl) hemophilia A
- Females with severe (FIX<0.01u/dl) or moderate (FIX-0.01<0.06u/dl) hemophilia B
- Willingness to participate in the study.
- Subjects who do not meet the inclusion criteria with respect to gender or hemophilia severity.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The prevalence of females with severe or moderate hemophilia A or B in the United States. Study Duration
- Secondary Outcome Measures
Name Time Method 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 Collect and analyze data on the health-related quality of life and psychosocial adaptation to disease of 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. Study Duration
Trial Locations
- Locations (19)
City of Hope National Medical Center
🇺🇸Duarte, California, United States
Mountain States Regional Hemophilia and Thrombosis Center
🇺🇸Aurora, Colorado, United States
Georgetown University Hospital
🇺🇸Washington, District of Columbia, United States
University of Kentucky Hemophilia Treatment Center
🇺🇸Lexington, Kentucky, United States
Henry Ford Hospital Adult Hemophilia and Thrombosis Treatment Center
🇺🇸Detroit, Michigan, United States
Hemophilia Center of Western New York - Pediatric
🇺🇸Buffalo, New York, United States
Long Island Jewish Medical Center
🇺🇸New Hyde Park, New York, United States
Weill Cornell Medical College
🇺🇸New York, New York, United States
Mary M. Gooley Hemophilia Center, Inc.
🇺🇸Rochester, New York, United States
Oklahoma Center for Bleeding Disorders
🇺🇸Oklahoma City, Oklahoma, United States
Puerto Rico Hemophilia Treatment Center
🇵🇷San Juan, Puerto Rico
Emory University Hemophilia Program Office
🇺🇸Atlanta, Georgia, United States
Northwestern University
🇺🇸Chicago, Illinois, United States
Boston Hemophilia Center- Children's Hospital
🇺🇸Boston, Massachusetts, United States
Newark Beth Israel Medical Center
🇺🇸Newark, New Jersey, United States
Children's Hospital Medical Center of Akron
🇺🇸Akron, Ohio, United States
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Gulf States Hemophilia and Thrombophilia Center
🇺🇸Houston, Texas, United States