Low VW Activity in Adolescent HMB

Baylor College of Medicine120 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

120

Conditions

Von Willebrand Factor Deficiency

Interventions

Medical Record Data AbstractionOTHER

The subject's response to intranasal or intravenous desmopressin (DDAVP) challenge performed as part of standard of care will be recorded. The desmopressin is a drug that increases the clotting factor in blood to prevent bleeding. Medical and family history including and not limited to age, diagnoses, race/ethnicity, lab values, HMB and low VWF activity diagnoses, and treatment history and outcome will also be recorded.

Pictorial Blood Assessment Chart (PBAC) scoreOTHER

PBAC is a pictorial tool to assess menstrual blood loss. Study team will complete the PBAC assessment with each study participant evaluating and measure response to different treatments for menstrual blood loss in the clinic setting between those with VWD versus other bleeding disorders.

Eligibility

Sex: FEMALEMax age: 21 Years

Medical Language ↔ Plain English

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)

Locations (12)

Children's Hospital of Atlanta

Atlanta, Georgia, United States

Michigan State University

East Lansing, Michigan, United States

Children's Mercy Hospital

Kansas City, Missouri, United States

Joseph M Sanzari Children's Hospital

Hackensack, New Jersey, United States

Hemophilia Center of Western New York

Buffalo, New York, United States

Mary M. Gooley Hemophilia Center

Rochester, New York, United States

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Nationwide Children's Hospital

Columbus, Ohio, United States

University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Vanderbilt University Medical Center

Nashville, Tennessee, United States

...and 2 more locations

Outcomes

Primary Outcomes

Number of adolescents with Low VWF and HMB with genetic variations in VWF gene and other genes affecting bleeding, clotting and blood vessel biology

The genetic variations of adolescent females with heavy menstrual bleeding and low von Willebrand factor activity in VWF gene and other genes affecting bleeding, clotting and blood vessel biology

Time frame: 3 years

Secondary Outcomes

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)

The correlation of subjects with and without genetic variations with bleeding phenotype (including PBAC score, ISTH BAT score, response to DDAVP challenge and HMB therapy)

Time frame: 3 years