NEW YORK REGION THALASSEMIA CENTER

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(Adapted from the applicant's abstract) The overall objective of this proposal is to establish a New York Regional Thalassemia Center (NYRTC) that could participate in the development and establishment of the NIH Thalassemia Clinical Research Network (TCRN). Key research in thalassemia and the meaningful evaluation of new therapies would be greatly enhanced by the creation of this network. In preliminary work, the investigators have developed a group of 12 regional institutions caring for more than 200 patients and have begun compiling a patient database. Members of the NYRTC have identified two central subjects for investigation as models for collaborative trials: hepatitis C( HCV) infection and osteoporosis. The first study proposes combination therapy to treat HCV, a complication common among patients transfused before blood screening which leads to increased risk of liver disease (fibrosis, cirrhosis, cancer) from both iron overload and HCV. Interferon alone is effective in only 10% of cases. Pilot studies combining interferon and ribavirin show promise. The investigators propose to include analysis of iron status patient and host specific disease modifiers, including mutations of the HFE gene. These mutations affect gastrointestinal iron absorption and the investigators have found are associated with low CD8 immunotype. The second study centers on evaluation and treatment of osteoporosis. Iron overload influences bone metabolism both directly and indirectly through effects on the immune, endocrine and hematopoietic systems. Markers of bone formation and resorption will be correlated with bone mineral density and a variety of iron-related parameters as well as the above mentioned host specific disease modifiers. A clinical trial will be undertaken to assess the effectiveness of pamidronate, a drug that inhibits bone resorption. Again, the impact of iron and the disease modifiers will be examined. These studies are ideally suited to multicenter collaborations.