The Hemophilia Research Program at UC San Diego Health is directed at advancing new therapies, evaluating novel aspects in hemophilia care, and creating new knowledge about the evolving needs of the aging patient with hemophilia. The program includes clinical trials as well as translational and basic research in hemophilia. Our patients have the opportunity to participate in cutting-edge research and contribute to scientific and medical knowledge in a variety of innovative ways that could not only help them, but also help the larger community of affected patients.
Our center conducts clinical trials aimed at studying novel clotting factor preparations. The trials are industry-sponsored, multi-center trials carried out in a number of centers throughout the United States and around the world. Patient participation helps to develop new treatment options that may be more effective to stop bleeding, or provide longer lasting bleed protection. Trial implementation (from site initiation to first patient included) can take many months as study protocols are rigorously examined for their validity and safety by our center and by the
UC San Diego Human Research Protection Program (HRPP).
There is no cost for study participation or clotting factor preparations, and participants are reimbursed for time, effort, and travel costs. To learn more, call the Hemophilia and Thrombosis Treatment Center at 619-471-0335.
Translational and Basic Research
Dr. Annette von Drygalski conducts basic, translational, and clinical research in the field of hemostasis and thrombosis. Additionally, Dr. von Drygalski and her team are interested in furthering the understanding of associated conditions such as joint disease and cardiovascular disease in adult patients with hemophilia.
Heart health is becoming an important concern for patients with hemophilia. For many decades, it was believed that patients with hemophilia were protected against heart disease and stroke as their "blood is naturally thin." Patients with hemophilia were considered "hypocoagulable." The aging population with hemophilia teaches us that this is not true. Through our research efforts, we recently discovered that patients with hemophilia suffer more frequently from high blood pressure than the general population.
This is of major concern as high blood pressure increases the risk for intracranial bleeding (stroke) and, despite the availability of safe clotting factors for patients with hemophilia, intracranial hemorrhage remains the major cause of death in adults with hemophilia. Reasons for the prevalence of high blood pressure are poorly understood and we are currently investigating this. Our center has launched a cross-sectional and longitudinal study in collaboration with the Division of Preventive Medicine at UC San Diego Health to assess heart health and risk factors for heart disease in hemophilia. Patients of all ages with hemophilia are welcome to join and contribute to new knowledge which ultimately will inform the medical community, result in better prevention and treatment strategies, and improve health outcomes of patients with hemophilia.
Joint health and "Hemophilic Arthropathy in Adulthood"
Joint health and "Hemophilic Arthropathy in Adulthood" is another emerging aspect of hemophilia health care and well-being. Hemophilic arthropathy is debilitating and therefore requires prevention and appropriate treatment. Unfortunately, even in the modern era of prophylactic clotting factor replacement therapy, the development of joint disease often cannot be avoided entirely. Reasons for this are somewhat unclear, but we think that some patients’ joints react more sensitively to bleeding than others (i.e. few bleeds may suffice to cause permanent harm), that bleeding sometimes goes unnoticed (subclinical bleeding), or that other mechanisms related to bone health play a role. We previously demonstrated that Musculoskeletal Ultrasound (MSKUS) has a high sensitivity to distinguish between bleeding and inflammation during painful episodes. (Read article.)
We are about to launch a study investigating joint disease through MSKUS, Magnetic Resonance Imaging (MRI), functional joint health assessments, and biomarker studies in relation to personal metabolism of clotting factor preparations. We are collaborating with our colleagues in radiology at UC San Diego Health as well as basic researchers at The Scripps Research Institute to investigate molecular aspects of hemophilic joint disease. The ultimate goal is to shed light on the pathophysiology and progression of joint destruction as the basis for the development of modern and direct intervention strategies to reduce the vicious cycle of bleeding, inflammation, pain and progression of disease. Patients of all ages with hemophilia are welcome to join and contribute to new knowledge which ultimately will inform the medical community, result in better prevention and treatment strategies, and improve outcomes of patients with hemophilia.
New bypassing strategies for inhibitors
Dr. von Drygalski is interested in novel bypassing strategies for patients with hemophilia who have developed inhibitors. She was the 2012 recipient of a Bayer Early Career Investigator Award which allows her to study "FVa activity augmentation as a novel bypassing strategy in hemophilia" in collaboration with basic scientists at The Scripps Research Institute.
Read more. The research team engineered a novel FVa molecule, named
superFVa, which was found to have superior hemostatic properties in hemophilic plasma and controls bleeding in hemophilic mice. The team is now studying this novel molecule in hemophilia with inhibitors.
Molecular advances in hemophilic joint disease
Dr. von Drygalski is also interested in molecular aspects of hemophilic joint disease on a basic scientific level. One aspect involves a specific anti-fibrinolytic and anti-inflammatory protein called Thrombin Activatable Fibrinolysis Inhibitor (TAFI). To investigate how TAFI may contribute to joint disease and to study how strategies involving TAFI could contribute to decreased joint bleeding and inflammation, Dr. von Drygalski was awarded a Career Development Award by the National Hemophilia Foundation in 2013. This award was sponsored by Novo Nordisk.
Dr. von Drygalski works in close collaboration with basic scientists at the Scripps Research Institute. Look into their labs:
The team approach provides a unique platform to study the cross-talk between bleeding and inflammation in the hemophilic joint, novel bypassing strategies for patients with inhibitors, and to identify novel approaches for the treatment and prevention of joint bleeding and hemophilic arthropathy.