Females With Severe or Moderate Hemophilia A or B: A Multi-Center Study

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.

Study Overview

• Status: Completed
• Conditions: Hemophilia A; Hemophilia B

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
• Enrollment (Actual): 22

Contacts and Locations

Study Locations

• Puerto Rico
  • San Juan, Puerto Rico, 00936
    • Puerto Rico Hemophilia Treatment Center
• United States
  • California
    • Duarte, California, United States, 91010
      • City of Hope National Medical Center
  • Colorado
    • Aurora, Colorado, United States, 80045
      • Mountain States Regional Hemophilia and Thrombosis Center
  • District of Columbia
    • Washington, District of Columbia, United States, 20007
      • Georgetown University Hospital
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University Hemophilia Program Office
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Northwestern University
  • Kentucky
    • Lexington, Kentucky, United States, 40536
      • University of Kentucky Hemophilia Treatment Center
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Hemophilia Center- Children's Hospital
  • Michigan
    • Detroit, Michigan, United States, 48202
      • Henry Ford Hospital Adult Hemophilia and Thrombosis Treatment Center
  • New Jersey
    • Newark, New Jersey, United States, 07112
      • Newark Beth Israel Medical Center
  • New York
    • Buffalo, New York, United States, 14222
      • Hemophilia Center of Western New York - Pediatric
    • New Hyde Park, New York, United States, 11040
      • Long Island Jewish Medical Center
    • New York, New York, United States, 10065
      • Weill Cornell Medical College
    • Rochester, New York, United States, 14621
      • Mary M. Gooley Hemophilia Center, Inc.
  • Ohio
    • Akron, Ohio, United States, 44308
      • Children's Hospital Medical Center of Akron
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Children's Hospital Medical Center
  • Oklahoma
    • Oklahoma City, Oklahoma, United States, 73104
      • Oklahoma Center for Bleeding Disorders
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia
  • Texas
    • Houston, Texas, United States, 77030
      • Gulf States Hemophilia and Thrombophilia Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 month and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Females with severe or moderate (less than 5%) hemophilia A or B.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Females with Hemophilia; Females with severe or moderate Hemophilia A or B.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
The prevalence of females with severe or moderate hemophilia A or B in the United States.	Study Duration

Secondary Outcome Measures

Outcome Measure	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.	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

Collaborators and Investigators

• Sponsor: Weill Medical College of Cornell University
• Collaborators: University of Pennsylvania; CSL Behring

Study record dates

Study Major Dates

• Study Start: April 1, 2005
• Primary Completion (Actual): January 1, 2010
• Study Completion (Actual): January 1, 2010

Study Registration Dates

• First Submitted: July 9, 2009
• First Submitted That Met QC Criteria: July 9, 2009
• First Posted (Estimate): July 10, 2009

Study Record Updates

• Last Update Posted (Estimate): December 10, 2012
• Last Update Submitted That Met QC Criteria: December 6, 2012
• Last Verified: December 1, 2012

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Blood Coagulation Disorders; Hemophilia A; Hemophilia B
• Other Study ID Numbers: Females with Hemophilia