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Are you interested in participating in a clinical research study of an investigational medication to determine if the treatment may slow down the progression of Gaucher Disease (GD)?

What is Gaucher Disease?

Gaucher disease (GD) is an inherited lysosomal storage disease (passed down through families) that results from a deficiency of an enzyme called glucocerebrosidase (GCase), also known as acid beta-glucosidase. 
Enzymes like GCase perform several tasks, including breaking down fats (glycosphingolipids) in the body. As a result of the GCase deficiency, fats are accumulated inside cells known as “Gaucher cells”.
In patients with GD, proliferation of Gaucher cell and accumulation of fats is observed predominantly in liver, spleen and bone marrow.
Manifestations most frequently related to this accumulation include splenomegaly, hepatomegaly, thrombocytopenia, anemia, skeletal pathology and neurological manifestation.

Types of Gaucher Disease

  • Gaucher disease type 1 - GD1
  • Gaucher disease type 2 - GD2
  • Gaucher disease type 3 - GD3

While Enzyme Replacement Therapy (ERT) has demonstrated efficacy in treating the systemic non-neurological manifestations of GD, ERT has had negligible effects on the neurological manifestations of GD3. 

Currently, there are no approved therapies for the treatment of the neurological manifestations of GD3.

What is the purpose of this clinical study?

The purpose of this Phase III study, called LEAP2MONO, is to assess for improvement or stabilization of neurological signs and symptoms, maintenance of systemic disease stability (organ effects – spleen and liver size and blood levels) and safety of a daily, oral investigational medication (venglustat) compared to another medication (Cerezyme) given as an intravenous infusion (injecting the medication directly into a vein in a drip) every 2 weeks for GD3.              

What is expected from you if you qualify and decide to participate?

  • Participants will be randomly assigned (by chance like flipping a coin) to receive investigational medication or Cerezyme in a 1:1 ratio. This means, you will have a 50/50 chance to receive the investigational medication or Cerezyme.
  • You will have about 10 visits to the study site for physical exams, blood draws, neurological & eye examination and other outcome assessments (E.g., questionnaires).

What is the length of the study?

The study will last a minimum of about 2 years and 2 months to a maximum of about 3 years and 8 months. The study will consist of the following periods:

  • Screening (45 days) to determine study eligibility.
  • If eligible, 52 week double-blind treatment period (5 visits and 5 phone calls).  
  • Following the double-blind period, patients will then enter open label treatment period (5 visits and phone calls every 8 weeks for at least one year). This period will last a minimum of 52 weeks (around 1 year) and a maximum of 130 weeks (around 2 and a half years).
  • Follow-up (1 study visit). 

How many people are in this study?

The study is being conducted in multiple countries. 

It is planned to include approximately 40 participants, including 10 pediatric participants (age ≥12 years and <18 years).

FAQ

What is a clinical research study?  

Clinical research studies are used to show if/how an investigational drug works and to find out if it is safe. They can also be referred to as clinical research trials.  Clinical studies are run by qualified healthcare professionals. The doctors and other healthcare providers are responsible for the study-related care of the people that participate (or enroll) in these studies. Clinical research studies are a mandatory part of the process that leads to health authority review and approval which is required before a drug can be marketed.

Independent committees (called Institutional Review Boards or IRBs) are made up of medical and nonmedical people who also watch over clinical research studies to make sure that the people who enroll are properly and adequately informed and consent to study participation.

What is a Phase III (Phase 3) trial? 

Researchers compare the investigational medication with the current standard treatment or placebo. They monitor any side effects very closely.  Larger groups of patients (typically several hundred to thousands of people) participate in Phase 3 clinical trials. These studies can take many years to complete and are often completed in many different locations. 

The purpose of a Phase 3 trial is to determine whether the investigational medication is safe and if it has a therapeutic (beneficial) effect. 

In most cases, a study participant and study doctor will not know whether they have received the investigational medication, an existing treatment, or placebo. This helps minimize any bias.

Why should I join a clinical research study?

Thousands of people volunteer to participate in clinical trials every year. The reasons for participation vary, but all of them help to advance medicine. Some reasons include:

  • Medical supervision. Some people have a disease for which there is no approved treatment. They might join a clinical trial in the hopes of receiving an experimental medicine.
  • Contribute to future treatments. Many participants wish to help future patients. This has been reported by both patients and healthy volunteers.
  • Help improve the lives of others. Some people participate with the hope of helping others. The investigational drug or vaccine could benefit other patients and, in some cases, save lives.

What is an investigational medication? 

An investigational medication is what is being studied to see if your symptoms improve while taking it.  The drug is not yet approved for general use by regulatory authorities.   During the open label treatment period, all participants will receive the investigational medication.  

What is a placebo? 

A placebo is an inactive substance or treatment that looks the same as, and is given in the same way as, an active drug or intervention/treatment being studied.  This study has a 50/50 chance of receiving a placebo for up to 52 weeks during the treatment period.  Neither you nor the study doctor will know if you are receiving the placebo or investigational medication.  

What is a double-blind study?

Neither the study participant nor the study doctor will know which treatment the patient is receiving.

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