Foreword.

Abstract

The International Collaborative Gaucher Group (ICGG) Gaucher Registry (clinicaltrials.gov NCT00358943) is the largest observational study of patients and Gaucher disease in the world. As a recipient of data from the Registry, the National Gaucher Foundation (NGF) has been able to see firsthand the benefits it provides to the medical community, researchers, patients, and physicians. Through the Registry, patients and physicians have been brought closer together; patients have been able to play a greater role in their health and physicians, after learning how potentially life-saving information could be shared with others, have become more eager to participate in and add patient data to the Registry. An important outcome is that, as a prototype, the Registry showed physicians that data can be used effectively to better understand disease and establish a standard of care. In the past, there had been many disagreements and differences of opinion about the management of Gaucher disease, but the Registry has enabled sharing of “best practice” and the development of more uniform treatment and care programs, which have ultimately improved patients’ lives. Without Registry data, for example, we would not have learned how quickly the skeleton and other organs are adversely affected by Gaucher disease, and this has created a greater sense of urgency regarding diagnosis and treatment. For more than 20 years, through its participating physicians and dedicated staff, the Registry has successfully implemented its mission to increase the understanding of the intricacies of Gaucher disease and to improve the lives of those living with this often debilitating and sometimes fatal disease. The European Gaucher Alliance (EGA) congratulates Genzyme, a Sanofi company, on the establishment of the ICGG Gaucher Registry more than 20 years ago and on the contribution the Registry has made to the Gaucher community over the last two decades. The forethought in the establishment of the Registry was creative and has allowed those with access to its data to take a long view of disease progression and the impact of therapy. The Gaucher Registry has been an invaluable resource in enhancing knowledge and understanding of the manifestations and progression of Gaucher disease amongst the whole Gaucher community, which has undoubtedly resulted in improved clinical management. Information from the Registry has also been an invaluable tool in educating clinicians new to the field of Gaucher disease. The ICGG Neurological Outcomes Subregistry was introduced in recognition of the complexities faced by this group of patients needing specific data collection and has helped to identify unmet needs and the necessity for additional monitoring in patient care. The further development and enhancement of Registry data collection over the years has offered the Gaucher community a resource for increasing the understanding and management of Gaucher disease, for supporting areas of unmet needs by stimulating research, and for fuelling the publication of peer-reviewed papers that are available globally to those involved in treating patients. The impact of the Registry is felt by Gaucher patients every day and, on behalf of Gaucher patients, the EGA wishes to express its thanks to all who have been involved with the ICGG Gaucher Registry throughout the years. The authors acknowledge Genzyme, a Sanofi company, for supporting this publication with an unrestricted grant. The opinions expressed in this article are those of the authors and do not necessarily reflect those of Genzyme.