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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00936845

Enrollment

Registered

2009-07-10

Start date

2005-04-30

Completion date

2010-01-31

Last updated

2012-12-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hemophilia A, Hemophilia 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

1 Months to No maximum

Healthy volunteers

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.

Design outcomes

Primary

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

Secondary

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

Countries

Puerto Rico, United States

Outcome results