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.

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Key information

Conditions

Hemophilia A Blood Coagulation Disorders Blood Coagulation Disorders, Inherited Coagulation Protein Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Hematologic Diseases Hemic and Lymphatic Diseases Hemophilia B Hemorrhagic Disorders

Age range

1 month and older

Sex eligibility

Female

Study type

Observational

Primary location

Puerto Rico Hemophilia Treatment Center, San Juan, Puerto Rico

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

The prevalence of females with severe or moderate hemophilia A or B in the United States.

Time frame: Study Duration

Secondary outcomes

Collect existing data on the genetic and/or chromosomal causes for severe and moderate hemophilia A and B in females in the United States.

Time frame: 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.

Time frame: Study Duration
Collect and analyze data on the health-related quality of life and psychosocial adaptation to disease of females in the United States.

Time frame: Study Duration

Sponsors and collaborators

Lead sponsor

Weill Medical College of Cornell University

Other

Collaborators

CSL Behring
University of Pennsylvania

Registry information

Important dates

Study start: 2005
Primary completion: 2010
Study completion: 2010
First posted: Jul 10, 2009
Registry last updated: Dec 10, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed