Site Logo

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 ClinicalTrials.gov 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.

 

Click on the logos to find out more about their trials.

 

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.

 

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).

Clinical study in GD 1 and 3



Paediatric patients needed for a clinical research study testing an orally administered treatment in Gaucher disease types 1 & 3



This study will investigate if the investigational treatment, a substrate reduction therapy, works and its safety profile in paediatric patients with Gaucher disease type 1 & 3. Patients participating in the study will receive, based on their disease symptoms, either the study drug alone (cohort 1) or in combination with a currently approved enzyme replacement therapy (cohort 2). Patients may receive the study drug for up to 24 months. The safety of the study drug will be assessed through clinical lab evaluations, cardiological exams, hearing as well as neuropsychological tests. Efficacy will be evaluated through abdominal and bone images, and Gaucher Disease assessments. 

 

Sixty patients will participate in this study that is currently conducted in multiple countries including Russia, Turkey, Canada, Argentina, Italy, Sweden, France, Spain, the United Kingdom, and Japan. 

 

To participate in the study, patients should meet at least the following study criteria: 

 

  • be less than 18 years old
  • have Gaucher disease type 1 or 3
  • have received treatment with enzyme replacement therapy for at least 2 years and meet study specified Gaucher Disease treatment goals (cohort 1) or 
    
    have severe clinical manifestation of Gaucher Disease despite receiving adequate treatment with enzyme replacement therapy for at least 3 years, being at a stable dose for the past 6 months (cohort 2). 

 

If you are interested in more information, contact your treating physician who could assess your eligibility for the study. 

 

Further information can be obtained on www.clinicaltrials.gov, using study identifier NCT 03485677, or at www.clinicaltrialsregister.eu using study number EudraCT 2016-000301-37