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| Name | Class |
|---|---|
| Shire | INDUSTRY |
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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.
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group A | Adolescent women with heavy menstrual bleeding and low von willebrand factor activity. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Females under the age of 21 years old with heavy menstrual bleeding and low von willebrand factor
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| Name | Affiliation | Role |
|---|---|---|
| Sarah Sartain, MD | Texas Children's Hospital, an affiliate of Baylor College of Medicine | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Atlanta | Atlanta | Georgia | 30322 | United States | ||
| Michigan State University |
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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.
| 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. |
|
| 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. |
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| 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. |
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| East Lansing |
| Michigan |
| 48823 |
| United States |
| Children's Mercy Hospital | Kansas City | Missouri | 64108 | United States |
| Joseph M Sanzari Children's Hospital | Hackensack | New Jersey | 07601 | United States |
| Hemophilia Center of Western New York | Buffalo | New York | 14209 | United States |
| Mary M. Gooley Hemophilia Center | Rochester | New York | 14621 | United States |
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States |
| University of Pittsburgh | Pittsburgh | Pennsylvania | 15213 | United States |
| Vanderbilt University Medical Center | Nashville | Tennessee | 37232 | United States |
| University of Texas Southwestern Medical Center- Children's Medical Center | Dallas | Texas | 75235 | United States |
| Texas Children's Hospital | Houston | Texas | 77030 | United States |
| ID | Term |
|---|---|
| C531844 | Von willebrand factor, deficiency |
| D020141 | Hemostatic Disorders |
| D008595 | Menorrhagia |
| ID | Term |
|---|---|
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D006474 | Hemorrhagic Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D014592 | Uterine Hemorrhage |
| D014591 | Uterine Diseases |
| D005831 | Genital Diseases, Female |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D000091662 | Genital Diseases |
| D006470 | Hemorrhage |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D008599 | Menstruation Disturbances |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
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