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.
Status
Unknown
Phase
Not applicable
Enrollment
120
Locations
12
Results
Not posted
Publications
0
Study summary
What the protocol is testing.
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.
Full 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.
Interventions
Treatment arms and agents.
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
From registration to results.
First posted
Oct 14, 2016
Study start
Jan 5, 2017
Primary completion
Jun 2020
Study completion
Nov 2025
Results posted
Not reported
Registry updated
Apr 11, 2022
Outcomes
What the study measures.
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
Time frame · 3 years
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
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)
Time frame · 3 years
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)
Eligibility
Who can take part.
- Minimum age
- Not reported
- Maximum age
- 21 Years
- Sex
- FEMALE
- Healthy volunteers
- No
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)
Study locations
12 registered sites.
United States. Showing up to 24 locations stored in the fast local snapshot.
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
University of Texas Southwestern Medical Center- Children's Medical Center
Dallas, Texas, United States
Texas Children's Hospital
Houston, Texas, United States
Publications
Results and literature.
No PMID-linked publications were present in this registry snapshot.
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Related PeptideStat pages
Put the record in context.
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