Clinical trial NCT00936312: Females With Severe or Moderate Hemophilia A or B: an International Multi-center Study
Official title: Females With Severe or Moderate Hemophilia A or B: an International 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: Bayer
name: University Hospital, Bonn
First posted: 2009-07-10
Enrollment: 200
Sex: FEMALE
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 Hemophilia A (less than or equal to 5%) Females with severe or moderate Hemophilia B (less than or equal to 5%)

Brief summary: This is a multi-center, international study designed to collect clinical, genetic and quality of life information on females with hemophilia, an inherited bleeding disorder. The study is designed to determine whether there are problems and issues unique to females with hemophilia.

Detailed description: The study involves two questionnaires: one on the diagnosis, symptoms, complications and treatment of each participant to be completed by a staff member; the other is a questionnaire to be completed by the participant on how the disease has affected her life. Finally, for those participants who have not previously had genetic testing, the third part of the study is an optional blood test to determine the genetic cause, what change in the factor VIII or factor IX gene, caused the hemophilia. The test results will be available to those participants who wish to learn their results. With the data we collect we will compile a database to examine the connection between the genetic cause of hemophilia and the course and symptoms of the disease.

Eligibility criteria: Inclusion Criteria:

* Females with severe (FVIII\<0.01u/ml) or moderate (FVIII 0.01≤0.05 u/ml) hemophilia A
* Females with severe (FIX\<0.01u/ml) or moderate (FIX 0.01≤0.05u/ml) 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 molecular and cytogenetic etiology of the condition will be compiled. Clinical manifestation demonstrated by the female hemophiliacs will be compared to published data available. Genotype and phenotype will be correlated.
timeFrame: 1-2 visits
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Weill Cornell Medical College
state: New York
city: Perth
country: Australia
facility: Princess Margaret Hospital for Children
city: Bonn
country: Germany
facility: University Clinic Bonn
city: Munich
country: Germany
facility: University Clinic Munich
city: Tel Hashomer
country: Israel
facility: Sheba Medical Center
city: Genova
country: Italy
facility: Instituto G. Gaslini
city: Milan
country: Italy
facility: A. Bianchi Bonomi Hemophilia Center
city: Nara
country: Japan
facility: Nara Medical University
city: Utrecht
country: Netherlands
facility: University Hospital Utrecht
city: Malmo
country: Sweden
facility: Malmo University Hospital
city: Chunghua City
country: Taiwan
facility: Changhua Christian Hospital
state: Changhua
Study officials:
affiliation: Weill Medical College of Cornell University
name: William B Mitchell, MD
role: PRINCIPAL_INVESTIGATOR
References: