Brief Title
Females With Severe or Moderate Hemophilia A or B: A Multi-Center Study
Official Title
Females With Severe or Moderate Hemophilia A or B: A Multi-Center Study
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.
Study Type
Observational
Primary Outcome
The prevalence of females with severe or moderate hemophilia A or B in the United States.
Secondary Outcome
Collect existing data on the genetic and/or chromosomal causes for severe and moderate hemophilia A and B in females in the United States.
Condition
Hemophilia A
Study Arms / Comparison Groups
Females with Hemophilia
Description: Females with severe or moderate Hemophilia A or B.
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
22
Start Date
April 2005
Completion Date
January 2010
Primary Completion Date
January 2010
Eligibility Criteria
Inclusion Criteria:
- 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.
Exclusion Criteria:
- Subjects who do not meet the inclusion criteria with respect to gender or hemophilia
severity.
Gender
Female
Ages
1 Month - N/A
Accepts Healthy Volunteers
No
Contacts
William B Mitchell, MD, ,
Location Countries
Puerto Rico
Location Countries
Puerto Rico
Administrative Informations
NCT ID
NCT00936845
Organization ID
Females with Hemophilia
Responsible Party
Sponsor
Study Sponsor
Weill Medical College of Cornell University
Collaborators
CSL Behring
Study Sponsor
William B Mitchell, MD, Principal Investigator, Weill Medical College of Cornell University
Verification Date
December 2012