NCT02933411

Low VW Activity in Adolescent HMB

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 120 (estimated)
• Sponsor: Baylor College of Medicine · Academic / Other
• Sex: Female
• Age: 21 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Von Willebrand Factor Deficiency

Interventions

Type	Name	Description
OTHER	Genetic Analysis	Blood sample will be drawn to assess the number of participants enrolled that have sequence variation in the von willebrand factor gene and other genes affecting bleeding, clotting and blood vessel biology.
OTHER	Medical Record Data Abstraction	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.
OTHER	Pictorial Blood Assessment Chart (PBAC) score	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.
OTHER	Complete Bleeding Symptom ISTH Bleeding Assessment Tool	Study participants will complete the ISTH BAT assessment. The ISTH BAT is a questionnaire to aid in the standardized evaluation of the presence and severity of bleeding symptoms.

Timeline

• Start date: 2017-01-05
• Primary completion: 2020-06-01
• Completion: 2025-11-01
• First posted: 2016-10-14
• Last updated: 2022-04-11

Locations

12 sites across 1 country: United States