Rare Thrombotic Diseases Clinical Research Network

Project: Research project


Rare disorders that are associated with an increased thrombotic risk include the antiphospholipid antibody syndromes, heparin-induced thrombocytopenia, combined thrombophilic states, paroxysmal nocturnal hemoglobinuria, thrombotic thrombocytopenic purpura, and the catastrophic ‘thrombotic storm’. These disorders frequently exhibit more “aggressive” clinical phenotypes, with thromboembolic events affecting arterial, venous, and/or microvascular beds. In addition, venous thrombosis may occur in unusual locations, and there is an increased risk for recurrent or fatal outcomes. Diagnostic and/or therapeutic limitations exist for each of these disorders, and prospective studies are needed to more clearly define the syndromes and develop better therapies. This proposal is for a multi-institutional academic center that focuses on rare disorders associated with an increased thrombotic risk, which will be developed through the following Aims:
(1) Establish a Rare Disease Clinical Research Center with an investigative and clinical theme focused on rare thrombotic disorders. Investigators from four academic medical centers will bring together existing registries (e.g., Antiphospholipid Syndrome Collaborative Registry) and programs (e.g., CDC-sponsored Thrombophilia Programs; Duke Center for Human Genetics) to identify and enroll patients into prospective clinical trials that focus on (a) genetic characterization of these rare disorders; (b) identification of patients at high risk for adverse thromboembolic outcomes; and (c) the natural history of the disorders in selected populations. Emerging opportunities from ongoing studies will be identified that promote new research ideas, projects, and translational activities that foster links between the Center and industry.
(2) Develop a training program for new investigators who are interested in rare thrombotic disorders. A program will be instituted that combines opportunities in clinical management as well as epidemiologic, genetic, diagnostic, and therapeutic investigations involving patients with rare thrombotic disorders.
(3) Develop a web site that promotes education and research activities involving patients with rare thrombotic disorders. A web-site will be developed in coordination with the Data Technology and Coordinating Center and the other Rare Disease Research Centers that focuses on rare disorders. This site will be developed for patients, healthcare providers, and the general public
Effective start/end date1/1/0812/31/09


  • Duke University Medical Center


Rare Diseases
Antiphospholipid Syndrome
Research Personnel
Paroxysmal Hemoglobinuria
Thrombotic Thrombocytopenic Purpura
Fatal Outcome
Medical Genetics
Centers for Disease Control and Prevention (U.S.)
Natural History
Venous Thrombosis
Health Personnel
Clinical Trials