Low VW Activity in Adolescent HMB

Von Willebrand Factor Deficiency Clinical Trial

— Low VWF  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT02933411
• Other study ID #: H-39295 LOW VWF
• Status: Active, not recruiting
• Start date: January 5, 2017
• Est. completion date: November 2025

Study information

• Verified date: April 2022
• Source: Baylor College of Medicine
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 120
• Est. completion date: November 2025
• Est. primary completion date: June 2020
• Accepts healthy volunteers: No
• Gender: Female
• Age group: N/A to 21 Years

Eligibility

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)

Related Conditions & MeSH terms

• Von Willebrand Diseases
• Von Willebrand Factor Deficiency

Intervention

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.
• 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.
• 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.
• 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.

Locations

Country	Name	City	State
United States	Children's Hospital of Atlanta	Atlanta	Georgia
United States	Hemophilia Center of Western New York	Buffalo	New York
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	University of Texas Southwestern Medical Center- Children's Medical Center	Dallas	Texas
United States	Michigan State University	East Lansing	Michigan
United States	Joseph M Sanzari Children's Hospital	Hackensack	New Jersey
United States	Texas Children's Hospital	Houston	Texas
United States	Children's Mercy Hospital	Kansas City	Missouri
United States	Vanderbilt University Medical Center	Nashville	Tennessee
United States	University of Pittsburgh	Pittsburgh	Pennsylvania
United States	Mary M. Gooley Hemophilia Center	Rochester	New York

Sponsors (2)

Lead Sponsor	Collaborator
Baylor College of Medicine	Shire

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	3 years
Secondary	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)	3 years