Despite 5 licensed products for the visceral manifestations of Gaucher disease, there remains huge unmet needs in finding a treatment for the neurological aspects of the disease.
Conducting a clinical trial in neuronopathic Gaucher disease is an ongoing challenge; identifying the right end points, with a limited timeframe and a heterogeneous population?
Should we be looking at different treatment possibilities in those countries that are not able to pay for treatment?
The first treatment for Gaucher disease was licensed in 1991, we now have 5 licensed treatments for Type 1 Gaucher disease. Treatments for Gaucher disease have not only saved lives but have paved the way for treatments for many other LSDs and improved the lives of patients who in the past would have been faced with debilitating illness often resulting in a painful death. Sadly, this is still the case for many patients today, those with severe neuronopathic Gaucher disease and those who are unable to access treatments because their governments will not pay for these high cost treatments.
As the world become more connected and we learn more about Gaucher disease we know that the neuronopathic forms of the disease are not as rare as we thought and in some parts of the world the majority of patients have Type 2 or 3. The heterogeneity of these patients presents a real challenge to those working in the field of drug development and access to the natural History data of these patients will be vital to develop robust clinical endpoints to successfully bring a treatment (s) through licensing and health technology appraisals and to the patients.