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Trial record 1 of 1 for:    GENOTYPIC AND PHENOTYPIC ANALYSIS OF ADOLESCENTS WITH HEAVY MENSTRUAL BLEEDING AND LOW VON WILLEBRAND ACTIVITY
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Low VW Activity in Adolescent HMB (Low VWF)

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ClinicalTrials.gov Identifier: NCT02933411
Recruitment Status : Active, not recruiting
First Posted : October 14, 2016
Last Update Posted : April 11, 2022
Sponsor:
Collaborator:
Shire
Information provided by (Responsible Party):
Sarah Sartain, Baylor College of Medicine

Brief 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.


Condition or disease Intervention/treatment
Von Willebrand Factor Deficiency Other: Genetic Analysis Other: Medical Record Data Abstraction Other: Pictorial Blood Assessment Chart (PBAC) score Other: Complete Bleeding Symptom ISTH Bleeding Assessment Tool

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.

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Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Genotypic and Phenotypic Analysis of Adolescents With Heavy Menstrual Bleeding and Low Von Willebrand Activity
Actual Study Start Date : January 5, 2017
Actual Primary Completion Date : June 2020
Estimated Study Completion Date : November 2025

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Group A
Adolescent women with heavy menstrual bleeding and low von willebrand factor activity.
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 Name: PBAC Score

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.
Other Name: ISTH BAT Assessment




Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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)


Biospecimen Retention:   Samples With DNA
Blood sample will be drawn to assess the number of participants enrolled that have heavy menstrual bleeding and low von willebrand activity disease causing sequence variation in the von willebrand factor gene and other genes affecting bleeding, clotting and blood vessel biology.


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Females under the age of 21 years old with heavy menstrual bleeding and low von willebrand factor
Criteria

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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02933411


Locations
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United States, Georgia
Children's Hospital of Atlanta
Atlanta, Georgia, United States, 30322
United States, Michigan
Michigan State University
East Lansing, Michigan, United States, 48823
United States, Missouri
Children's Mercy Hospital
Kansas City, Missouri, United States, 64108
United States, New Jersey
Joseph M Sanzari Children's Hospital
Hackensack, New Jersey, United States, 07601
United States, New York
Hemophilia Center of Western New York
Buffalo, New York, United States, 14209
Mary M. Gooley Hemophilia Center
Rochester, New York, United States, 14621
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
United States, Pennsylvania
University of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15213
United States, Tennessee
Vanderbilt University Medical Center
Nashville, Tennessee, United States, 37232
United States, Texas
University of Texas Southwestern Medical Center- Children's Medical Center
Dallas, Texas, United States, 75235
Texas Children's Hospital
Houston, Texas, United States, 77030
Sponsors and Collaborators
Baylor College of Medicine
Shire
Investigators
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Principal Investigator: Sarah Sartain, MD Texas Children's Hospital, an affiliate of Baylor College of Medicine
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Responsible Party: Sarah Sartain, Assistant Professor, Baylor College of Medicine
ClinicalTrials.gov Identifier: NCT02933411    
Other Study ID Numbers: H-39295 LOW VWF
First Posted: October 14, 2016    Key Record Dates
Last Update Posted: April 11, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Sarah Sartain, Baylor College of Medicine:
Bleeding Disorders
Heavy Menstrual Bleeding
Additional relevant MeSH terms:
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Von Willebrand Diseases
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Coagulation Protein Disorders
Blood Platelet Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn