Foreword

The lysosomal storage diseases (LSDs) are a large group of progressive and often debilitating disorders for which, until recently, only palliative therapy has been available. The ongoing development of specific enzyme replacement therapies, however, is bringing hope to patients and physicians alike that effective treatment of these disorders is now an achievable objective. April 2001 saw the first in a planned series of symposia designed to provide a forum in which an international and multidisciplinary group of physicians, together with representatives from LSD patient support groups, could share the latest research into these diseases and the exciting results emerging from clinical trials of enzyme replacement therapy. Held in Seville, this first meeting concentrated on Fabry disease (also known as Anderson–Fabry disease), which, after Gaucher disease, is the most prevalent of the LSDs. It was fitting, therefore, that Professor Hermann Fabry introduced the programme with an historical account of the initial description of the disease made by his uncle, Johannes Fabry, and William Anderson in the 1890s. It was a further pleasure and a privilege to hear the keynote lecture given by the Nobel Laureate Professor Christian de Duve, who described his research that led to the discovery and characterization of lysosomes. These Proceedings reflect the papers presented during the two main scientific sessions of the Symposium and during the two parallel workshops. The opening session provided a description of the natural history of Fabry disease and how it impacts on the quality of life of both hemizygous male patients and heterozygous female carriers. New clinical trial data for agalsidase alfa presented during the session, however, showed that enzyme replacement therapy may significantly reduce the morbidity and, hopefully, the mortality associated with the disease. The session closed with a description of the present difficulties and future potential of gene therapy in Fabry disease and other LSDs. Enzyme replacement therapy has been used for some years to treat patients with Gaucher disease. The second main session of the Symposium discussed the success of this treatment and how the experience gained from treating Gaucher disease could benefit patients with other LSDs. Particular emphasis was placed on the need to have reliable and validated markers with which to assess both disease progression and the response to treatment. This theme was taken up in the workshop on the selection of endpoints in clinical studies of enzyme replacement therapy in the LSDs, which also discussed the heterogeneity of these disorders and the difficulty of predicting clinical phenotype from the genotype. The late complications of Fabry disease were discussed in the second workshop. Renal and cardiac manifestations of the disease are often severe in middle-aged as well as in many younger patients. Although it may be possible to halt or reverse these progressive changes using enzyme replacement therapy, the aim should be to diagnose patients and begin such treatment at an early age. Although not reported in these Proceedings, the Symposium also provided ‘Meet-theExpert’ sessions at which the following areas were examined: the importance of genetic counselling; the optimal biochemical work-up of a patient with a suspected LSD; issues