Low VW Activity in Adolescent HMB

Status:	Recruiting
Healthy:	No
Age Range:	Any - 21
Updated:	1/17/2019
Start Date:	January 5, 2017
End Date:	November 2025
Contact:	Lakshmi V Srivaths, MD
Email:	lvsrivat@txch.org
Phone:	832-822-4242

Genotypic and Phenotypic Analysis of Adolescents With Heavy Menstrual Bleeding and Low Von Willebrand Activity

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.

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.

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)

We found this trial at

sites

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229

1-513-636-4200