Living with Gaucher disease?

If you have Gaucher disease, you may be able to participate in a clinical trial that is taking a deeper look into how the disease is treated. Read more to find out how you can get involved today!

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About Gaucher disease

Gaucher disease is one of the most common lysosomal storage disorders. Lysosomal storage disorders are inherited diseases that cause buildup of certain chemicals in the body due to a lack of enzymes to break them down.

Gaucher disease results from not having enough glucocerebrosidase (GCase), an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-laden Gaucher cells build up in areas like the spleen, liver, and bone marrow.

Signs and Symptoms

Signs of Gaucher disease type 1, the most common form in western countries, can vary widely from person to person. Some people experience severe symptoms, while others have none at all. If you have Gaucher disease, you may have symptoms such as:

  • Swollen belly due to spleen and liver enlargement
  • Bone pain and easily fractured bones
  • Anemia (low blood counts) and fatigue
  • Bleeding and bruising problems

Type 1 Gaucher disease

Gaucher disease type 1 is the most common form of the disease. Symptoms include spleen and liver enlargement, bone problems, and fatigue. Brain development is normal. This form of Gaucher disease is treatable. For more information on Gaucher disease, go to: www.gaucherdisease.org/about-gaucher-disease/what-is/

About the SHP-GCB-402 Gaucher disease study

The SHP-GCB-402 Gaucher clinical research study is evaluating the effect velaglucerase alfa (VPRIV®) has on bone pain and bone density in people with type I Gaucher disease.

If you have type I Gaucher disease, glucocerebroside (a fatty substance) builds up in your body because you lack the enzyme glucocerebrosidase, which is needed to break it down. When this substance accumulates in your bone marrow (a spongy tissue filling the bones) it leads to loss of bone density and possible broken bones, as well as extreme pain.

The approved medication, velaglucerase alfa (VPRIV®) is a prescription medication indicated for long-term enzyme replacement therapy (ERT) for patients with type I Gaucher disease.

We’re looking for approximately 40 people to take part in this study. Each volunteer must meet at least the following criteria:

  • Be between 18 and 70 years of age (inclusive)
  • Have type I Gaucher disease
  • Not have received enzyme replacement therapy, substrate reduction therapy, or any osteoporosis-specific treatment in the past year

What happens if i take part in the study?

While receiving VPRIV®, participants will visit a study clinic approximately 14 times throughout the study. During the dosing period, these visits will be once every 3 months.

The study medication will be administered as a 60-minute intravenous (IV) infusion (a drip) once every 2 weeks. The first 3 doses will be administered at a study clinic. All doses from thereon may be administered at the participant’s home by a member of the study team, if the study doctor (investigator) sees fit. Overall, participants will receive 51 infusions over the course of 101 weeks. In addition to receiving IV infusions, the study doctor will assess and monitor participants’ general health. All study-related office visits, medical examinations, and study medication will be provided to qualified study participants at no cost to them.

Study site visits may also include the following assessments:

  • Physical examinations
  • Vital signs checks
  • Body weight and height measurements
  • Blood and urine tests

You may also be eligible for home infusions starting at Week 7. You will need to return to the study clinic for visits that include medical imaging.

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