Clinically relevant therapeutic endpoints in type I Gaucher disease

The introduction of enzyme supplementation therapy for Gaucher disease has had a great impact on the lives of many patients. Organomegaly, cytopenia a nd bone disease have been shown to improve in response to treatment, result ing in an improvement in quality of life. However, the assessment of organ system involvement is not always done in such a way that the relationship w ith clinically relevant endpoints is clear. The lack of adequately validate d methods of assessment, especially for bone disease, has hindered the esta blishment of treatment goals and guidelines for treatment optimization.