ALLOGENEIC BONE-MARROW TRANSPLANTATION FOR LYSOSOMAL STORAGE DISEASES

Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and le ads to metabolic improvements in most patients However, the long-term effect of such therapy is uncertain. We analysed the data from 63 pati ents transplanted for lysosomal storage diseases. The transplant-relat ed mortality was 10% if an HLA-identical sibling marrow donor was avai lable (n=40) and 20-25% if mismatched tissue was used. Data on the eff ect of bone transplantation on biochemical and clinical variables were available in 29 of the 63. 28 had a follow-up duration of 1.0-10.2 ye ars; 1 patient died of disease progression in the first year after sta ble engraftment. 13 patients who had severe neurological symptoms at t he time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal sympt oms because of various mucopolysaccharidoses (MPSs). There was stabili sation of the skeletal lesions during the observation period of 1.4-6. 4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated a fter transplantation. We could not evaluate the biochemical and clinic al variables in 34 patients because of graft rejection, transplant-rel ated mortality, or follow-up of less than 1 year. There were significa nt beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease, Stabilisation of disease was obse rved in patients with MPS-I and MPS-II; this potential benefit needs t o be confirmed by longer follow-up, Bone marow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.