Abstract
Advances in molecular biology have led to interest in new approaches to the treatment of genetic disease, such as gene therapy. Bone marrow transplantation provides a model for the introduction of a cloned gene into the marrow of the patient. Results of bone marrow transplantation in disorders involving the CNS should provide information on pathogenesis and whether prevention or reversal of CNS abnormalities can be achieved by the provision of a source of enzyme peripheral to the CNS. A 22 year old with Lesch-Nyhan disease was subjected to bone marrow transplantation. He was prepared with 4 doses each of horse antithymocyte globulin, 20 mg/kg, busulfan 3 mg/kg and cyclophosphamide 50 mg/kg. He was given 5 × 108 bone marrow cells from an HLA identical brother. Methotrexate was given 10 mg/m2 on 3 days posttransplantation to inhibit GVH, but also providing an in vivo equivalent of HAT medium to select against the patient's cells. Course was uneventful and uncomplicated by GVH. By day 60 the wbc were 14.3 and the platelets 200 × 103 per cmm and the hemetocrit 34.5. Prior to transplant the leucocyte activity of HPRT was 0.073 pm/min/μg protein and values obtained post transplant were 5.87 and 1.04. In rbc lysates pretransplant the activity was 2.4 mmol/min/ml packed rbc and data obtained 37 and 60 days post were 366 and 443. Radioautography of ficoll/hypaque separated lymphocytes stimulated with phytohemagglutinin documented the incorporation of 3H-hypoxanthine and revealed no HPRT- cells.
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Nyhan, W., Parkman, R., Page, T. et al. BONE MARROW TRANSPLANTATION IN LESCH-NYHAN DISEASE: 147. Pediatr Res 19, 768 (1985). https://doi.org/10.1203/00006450-198507000-00167
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DOI: https://doi.org/10.1203/00006450-198507000-00167