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We are aware of the challenges that can surround clinical trials for our patients. Our goal is to promote informed decision-making: this way you always fully comprehend what is going on every step of the way.


You can find information regarding current trials on including clinical sites, inclusion criteria, protocols etc. For your own convenience trial numbers are listed below alongside the relevant company name(s), simply input these numbers in the search bar to learn more about each respective trial.


Company websites can be accessed simply by clicking the company name, and a summary of current Clinical Trials is shown below against each pharmaceutical company.


If you have any further queries regarding clinical trials please don’t hesitate to get in touch


Gene Therapy


Gene therapy can be defined as the introduction of genetic material to cells of patients for therapeutic benefit. In simple terms, it involves providing a healthy functional copy of a gene to the patient's cells to compensate for a defective copy that causes the disease. Ideally this treatment would only need to be administered once in the lifetime of the patient. Even though the concept underlying gene therapy is straightforward, delivering genes into cells of a living organism is a very challenging process. Therefore, an essential component of gene therapy studies is the development of vectors that can efficiently deliver genetic material into cells.


Avrobio and Prevail have active gene therapy trials in Gaucher disease, however their approaches are different.


Heat Shock Protein Therapy


This approach is focused on the cellprotective properties of the heat-shock response, a natural defence mechanism in all our cells. The heat-shock response protects cells from an accumulation of misfolded proteins or other waste products, which would otherwise lead to toxicity and disease. The heat-shock response is generated through the production of heat-shock proteins, which act as the cells’ lifeguards.


Current clinical trials are being undertaken by Orphazyme’s drug Arimoclomol


Substrate Reduction Therapy


SRT for Neuronopathic GD: Sanofi Genzyme are currently in clinical trials with an SRT called Venglustat for type 3 Gaucher disease.  Venglustat is being investigated as a potential oral substrate reduction therapy for GD3. Preclinical studies indicate the novel oral treatment is a glucosylceramide synthase inhibitor that reduces the synthesis of glucosylceramide. Preliminary results  in phase II clinical trials show the pill to positively affect neurological features in adults with Gaucher disease type 3.


SRT for paediatrics: Sanofi Genzme are currently in clinical trials with the SRT Eligustat (Cerdelga, licensed for adults with GD1).