Low VW Activity in Adolescent HMB

NCT02933411 | Unknown

• 1 other identifier: H-39295 LOW VWF
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 12

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.

Conditions

Von Willebrand Factor Deficiency

Keywords

Bleeding Disorders; Heavy Menstrual Bleeding

Outcome Measures

Primary Outcomes (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

  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 Outcomes (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)

  3 years

Study Arms (1)

Group A

Adolescent women with heavy menstrual bleeding and low von willebrand factor activity.

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

Interventions

Genetic Analysis OTHER

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.

Group A

Medical Record Data Abstraction OTHER

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.

Group A

Pictorial Blood Assessment Chart (PBAC) score OTHER

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.

Also known as: PBAC Score

Group A

Complete Bleeding Symptom ISTH Bleeding Assessment Tool OTHER

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.

Also known as: ISTH BAT Assessment

Group A

Eligibility Criteria

• Age: Up to 21 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Females under the age of 21 years old with heavy menstrual bleeding and low von willebrand factor

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Baylor College of Medicine: lead
• Shire: collaborator

Study Sites (12)

Children's Hospital of Atlanta

Atlanta, Georgia, 30322, United States

Location

Michigan State University

East Lansing, Michigan, 48823, United States

Location

Children's Mercy Hospital

Kansas City, Missouri, 64108, United States

Location

Joseph M Sanzari Children's Hospital

Hackensack, New Jersey, 07601, United States

Location

Hemophilia Center of Western New York

Buffalo, New York, 14209, United States

Location

Mary M. Gooley Hemophilia Center

Rochester, New York, 14621, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

University of Texas Southwestern Medical Center- Children's Medical Center

Dallas, Texas, 75235, United States

Location

Texas Children's Hospital

Houston, Texas, 77030, United States

Location

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.

MeSH Terms

Conditions

Von willebrand factor, deficiency; Hemostatic Disorders; Menorrhagia

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Vascular Diseases; Cardiovascular Diseases; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Uterine Hemorrhage; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Hemorrhage; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Menstruation Disturbances

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Sarah Sartain, MD

  Texas Children's Hospital, an affiliate of Baylor College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: October 10, 2016
• First Posted: October 14, 2016
• Study Start: January 5, 2017
• Primary Completion: June 1, 2020
• Study Completion: November 1, 2025
• Last Updated: April 11, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (12)