Low VW Activity in Adolescent HMB

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Von Willebrand Factor Deficiency

Intervention / Treatment
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* Other: Genetic Analysis
* Other: Medical Record Data Abstraction
* Other: Pictorial Blood Assessment Chart (PBAC) score
* Other: Complete Bleeding Symptom ISTH Bleeding Assessment Tool


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Maximum Age: 21 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Group A<br>Adolescent women with heavy menstrual bleeding and low von willebrand factor activity. | Other: Genetic Analysis<br>* 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.<br>Other: Medical Record Data Abstraction<br>* 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.<br>Other: Pictorial Blood Assessment Chart (PBAC) score<br>* 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.<br>* Other names: PBAC Score;Other: Complete Bleeding Symptom ISTH Bleeding Assessment Tool<br>* 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.<br>* Other names: ISTH BAT Assessment;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Bleeding Disorders, Heavy Menstrual Bleeding