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(OBE-0985) Identification of genetic modifiers that ameliorate the clinical severity of patients with hemophilia


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Identification of genetic modifiers that ameliorate the clinical severity of patients with hemophilia

Principal Investigator:
Ohad S. Bentur MD

Investigators:

Contact Information:
Clinical Research Support Office
1230 York Avenue
New York, NY 10065
Telephone: 1.800.RUCARES
Email: RUCARES@Rockefeller.edu
Contact Information:
Ohad S. Bentur, MD
Telephone: 212.327.7376
Alt. Telephone:
E-Mail: obentur@rockefeller.edu


Enrollment Status:
Open to Enrollment

Brief Summary of Protocol:
Hemophilia is an inherited bleeding disorder that impairs the body’s ability to make blood clots. Hemophilia A is diagnosed in individuals who inherit a mutation in the gene for clotting factor VIII that results in reduced levels of this clotting factor in their blood. The severe form of hemophilia A is diagnosed in individuals who have very low levels of clotting factor VIII, less than 1% of normal levels. Patients with severe hemophilia A tend to suffer from severe bleeding symptoms, such as multiple joint bleeds. However, some patients suffer from less substantial bleeding symptoms than those usually seen in individuals with severe hemophilia. There is no good explanation why some severe hemophilia A patients bleed substantially less than others. To answer this question, we invite individuals with severe hemophilia A (clotting factor VIII levels <1% of normal) who have unusually mild bleeding symptoms to enroll in this study.



Detailed Description of Protocol:
Your participation will consist of answering questions about your medical history as it relates to bleeding. We may ask to review your medical record in order to review your doctor’s notes and the results of laboratory tests relating to the diagnosis of hemophilia. We will also draw a sample of your blood and perform genetic testing. We want to study the genes (genetic material inherited from your parents) to see if there is a mutation (alteration) in those genes that explains why your bleeding pattern is unusually less severe than that of most patients with severe hemophilia. Your participation will probably take about four hours.



What specifically makes a person eligible for the study?
You may be eligible to enter this study:

1. Have been previously diagnosed by a hematologist as having severe hemophilia A with factor VIII levels under 1% of normal.
2. Have relatively mild bleeding symptoms, such as:
• Your first joint bleeding event was after age 2 years old and you only started taking factor VIII prophylaxis after that age.
• At any time in the past or present you had a period of at least 2 years during which you were not taking factor VIII prophylaxis regularly and during that period you had less than 2 joint bleeds per year.
• Patients with inhibitors to factor VIII who fit the above criteria may be eligible for this study.
• Additional eligibility criteria are available and may be reviewed by contacting us. All patients with severe hemophilia A who suspect that they have unusually mild bleeding symptoms are encouraged to contact us.
• All patients with severe hemophilia A who suspect that they have unusually mild bleeding symptoms are encouraged to contact us.

Gender:
Both

Age(s):
0-100

Children permitted to participate:
Yes

Potential Benefits.....
We will report the results of the genetic testing to you and if necessary, we will cover the cost of a single genetic counseling session to explain those results to you. The information obtained in this study may lead to better diagnosis and treatment of bleeding diseases.



Compensation:
Compensation is provided.