Clinical trial NCT00936845: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hemophilia A
Hemophilia B
Lead sponsor: Weill Medical College of Cornell University
Sponsor class: OTHER
Collaborators: name: CSL Behring
name: University of Pennsylvania
First posted: 2009-07-10
Enrollment: 22
Sex: FEMALE
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Females with severe or moderate (less than 5%) hemophilia A or B.

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.

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.

Primary outcomes:
measure: The prevalence of females with severe or moderate hemophilia A or B in the United States.
timeFrame: Study Duration
Secondary outcomes:
measure: Collect existing data on the genetic and/or chromosomal causes for severe and moderate hemophilia A and B in females in the United States.
timeFrame: Study Duration
measure: 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.
timeFrame: Study Duration
measure: Collect and analyze data on the health-related quality of life and psychosocial adaptation to disease of females in the United States.
timeFrame: Study Duration
Other outcomes:
Locations:
city: Duarte
country: United States
facility: City of Hope National Medical Center
state: California
city: Aurora
country: United States
facility: Mountain States Regional Hemophilia and Thrombosis Center
state: Colorado
city: Washington
country: United States
facility: Georgetown University Hospital
state: District of Columbia
city: Atlanta
country: United States
facility: Emory University Hemophilia Program Office
state: Georgia
city: Chicago
country: United States
facility: Northwestern University
state: Illinois
city: Lexington
country: United States
facility: University of Kentucky Hemophilia Treatment Center
state: Kentucky
city: Boston
country: United States
facility: Boston Hemophilia Center- Children's Hospital
state: Massachusetts
city: Detroit
country: United States
facility: Henry Ford Hospital Adult Hemophilia and Thrombosis Treatment Center
state: Michigan
city: Newark
country: United States
facility: Newark Beth Israel Medical Center
state: New Jersey
city: Buffalo
country: United States
facility: Hemophilia Center of Western New York - Pediatric
state: New York
city: New Hyde Park
country: United States
facility: Long Island Jewish Medical Center
state: New York
city: New York
country: United States
facility: Weill Cornell Medical College
state: New York
city: Rochester
country: United States
facility: Mary M. Gooley Hemophilia Center, Inc.
state: New York
city: Akron
country: United States
facility: Children's Hospital Medical Center of Akron
state: Ohio
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Oklahoma City
country: United States
facility: Oklahoma Center for Bleeding Disorders
state: Oklahoma
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Gulf States Hemophilia and Thrombophilia Center
state: Texas
city: San Juan
country: Puerto Rico
facility: Puerto Rico Hemophilia Treatment Center
Study officials:
affiliation: Weill Medical College of Cornell University
name: William B Mitchell, MD
role: PRINCIPAL_INVESTIGATOR
References: