Clinical trial NCT02933411: Low VW Activity in Adolescent HMB
Official title: Genotypic and Phenotypic Analysis of Adolescents With Heavy Menstrual Bleeding and Low Von Willebrand Activity
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Von Willebrand Factor Deficiency
Keywords: Bleeding Disorders
Heavy Menstrual Bleeding
Lead sponsor: Baylor College of Medicine
Sponsor class: OTHER
Collaborators: name: Shire
First posted: 2016-10-14
Enrollment: 120
Sex: FEMALE
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Females under the age of 21 years old with heavy menstrual bleeding and low von willebrand factor

Brief summary: This is a research study for patients diagnosed with heavy menstrual bleeding (HMB) and low Von Willebrand Factor (VWF). Menstruation, also known as a period, is the regular discharge of blood and tissues from the uterus. HMB is having a heavier amount of discharge during menstrual period. Low Von Willebrand Factor means that the participant has lower level of a blood protein that is important for clotting of blood and so, the participant is at a higher risk for bleeding.

The purpose of this project is to study the genetic differences of adolescent females with HMB and low VWF activity and compare the genetic differences with their bleeding manifestations, response to medications and outcome.

Detailed description: One hundred and twenty subjects will be enrolled. Adolescent females with heavy menstrual bleeding (HMB) and low Von Willebrand Factor (VWF) will be recruited.

Data collection will occur from participant's medical records in regards to their low VWF activity and HMB medical history.

Participants will be asked to complete symptom questionnaires in regards to their HMB.

A blood sample will be collected to analyze how many participants have the disease causing sequence variation in the VWF gene and other genes affecting bleeding, clotting and blood vessel biology and correlated with their bleeding history.

The blood sample will be deidentified and stored indefinitely for future research.

Eligibility criteria: Inclusion Criteria:

* Post-menarchal females less than 21 years of age
* HMB defined as PBAC score greater than 100
* VWF:Activity more than or equal to 30 and less than or equal to 50 IU/dL x 2
* VWF: Activity /VWF:Ag ratio greater than or equal to 0.6
* Normal VW multimers, if performed

Exclusion Criteria:

* Post menarchal females age greater than or equal to 21 years
* VWF: Activity less than 30 or greater than 50 IU/dL consistently, type 2 or type 3 VWD
* Presence of other bleeding disorders (thrombocytopenia, platelet function defect, coagulation factor deficiency, fibrinogen defect or deficiency)

Primary outcomes:
measure: Number of adolescents with Low VWF and HMB with genetic variations in VWF gene and other genes affecting bleeding, clotting and blood vessel biology
timeFrame: 3 years
Secondary outcomes:
measure: Number of adolescents with Low VWF and HMB with genetic variations and bleeding phenotype (including PBAC score and ISTH-BAT score, response to DDAVP challenge, HMB therapy)
timeFrame: 3 years
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Children's Hospital of Atlanta
state: Georgia
city: East Lansing
country: United States
facility: Michigan State University
state: Michigan
city: Kansas City
country: United States
facility: Children's Mercy Hospital
state: Missouri
city: Hackensack
country: United States
facility: Joseph M Sanzari Children's Hospital
state: New Jersey
city: Buffalo
country: United States
facility: Hemophilia Center of Western New York
state: New York
city: Rochester
country: United States
facility: Mary M. Gooley Hemophilia Center
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
city: Dallas
country: United States
facility: University of Texas Southwestern Medical Center- Children's Medical Center
state: Texas
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
Study officials:
affiliation: Texas Children's Hospital, an affiliate of Baylor College of Medicine
name: Sarah Sartain, MD
role: PRINCIPAL_INVESTIGATOR
References: