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NHLBI Working Group: Hemophilia and Thrombosis Disorders Executive Summary
On November 13, 2009 the National Heart, Lung and Blood Institute convened a Working Group of senior scientists from both academia and government to define mechanisms whereby important clinical research can be developed and implemented for hemophilia and other rare hemostatic and thrombotic disorders. The objective was to identify and evaluate existing data resources, clinical trial capacities, candidate grant mechanisms and collaborative opportunities. Dr. Keith Hoots, Director of the Division of Blood Diseases and Resources, welcomed the participants and requested their advice and recommendations to advance clinical research.
Hemophilia is a rare bleeding disorder that is caused by a deficiency in either blood coagulation factor VIII or IX. Current treatment with infusion of plasma derived or recombinant factor to replace the missing protein, has greatly reduced morbidity and mortality associated with the disease. A recent study demonstrated that prophylaxis treatment with recombinant factor VIII prevented joint damage and bleeds in young children. However, the importance of continuation of this invasive, costly treatment into adulthood is unknown. In addition, approximately 20% to 30% of severe hemophilia A patients develop antibodies to factor VIII and standard factor replacement therapy becomes ineffective. Deficiencies in eight other coagulation factors, which can result in a bleeding disorder, have been documented. Few treatment options are available for these very rare bleeding disorders and clinical studies are difficult with the small number of patients. There are also rare inherited disorders, such as deficiencies in protein C, protein S or antithrombin that leads to thrombosis. Severe deficiencies often need lifelong treatment to prevent disabling or deadly thrombotic events. The need for prophylaxis and duration of therapy for these individuals with inherited or acquired bleeding or clotting disorders is often unclear. In addition, it is difficult to conduct clinical studies in rare patient populations. The Center for Disease Control (CDC) and Health Resources and Services Administration (HRSA) support a network of Hemophilia Treatment Centers (HTCs) across the United States. These centers provide comprehensive health management and prevention services to persons with bleeding and clotting disorders. Organizations such as the Hemophilia and Thrombosis Research Society (HTRS) and the American Thrombosis and Hemostasis Network (ATHN) provide a network of experienced investigators and clinicians, mentorship for new investigators, resource of clinical data and database infrastructure.
Clinical Research Topics:
Examples of clinical research needs for hemophilia and rare bleeding and clotting disorders discussed:
Clinical Research Challenges:
The committee identified several barriers that impede clinical research that could improve health for individuals with rare bleeding and clotting disorders. The challenges include:
In order to meet the need for evidence based treatment guidelines for rare bleeding and clotting disorders, new approaches are required for conducting clinical research and collecting outcomes data. A collaboration of federal agencies, research organizations and academic investigators focused on advancing clinical research for hemophilia and rare hemostasis and thrombosis disorders could have a significant impact. The committee’s recommendations to NHLBI include:
Working Group Members:
NHLBI Staff Members:
Last Updated February 2011