Medical Communication

July 2019: Meducom supports development guidance and recommendations to address complications of rare disease

By November 15, 2019 No Comments

Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is often seen and these consequences are challenging to recognise and treat in a timely manner, for those who are familiar with this rare disease, but even more so for those who are not experts in the area. Until today, there were no practical guidelines or pragmatic recommendations for the proper assessment and management of bone manifestations in Gaucher Disease. For this reason, a group of experts from various disciplines and with different clinical perspectives gathered to discuss and develop recommendations which could be endorsed by the many disciplines involved. The discussion was based on collective clinical experience as well as relevant literature published in the past 20 years. The group of experts succeeded in creating a comprehensive and clear overview of their collective recommendations. The experts saw great value in sharing the results and upon their request, and with the support of Meducom, the outcomes were summarised in a review paper. It is the hope of the authors that the resulting review paper (published in the Journal of Bone and Mineral Research) will be helpful for all those seeking guidance for the monitoring and treatment of bone manifestations in Gaucher Disease. Meducom was invited as an independent content expert party to design and moderate the meeting to achieve consensus and to prepare the scientific review. Both the meeting as well as the resulting review paper were made possible by the financial support of a leading pharmaceutical company.

For online access to the article see: