This site is currently under construction. The information below is meant to serve as a general overview of Gaucher disease. For additional information, speak to a doctor or contact the Sanofi Genzyme CareConnect team by completing a request information form, calling 1-800-745-4447 (Option 3) Monday through Friday, 8:00 AM to 6:00 PM EST, or visiting CareConnectPSS.com.

What Is Gaucher Disease?

Gaucher (pronounced go-shay) disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil-saramide, also called GL-1), to build up in the spleen, liver, and bone. As GL-1 builds up, people with Gaucher disease type 1 may experience excessive bruising and bleeding, and a protruding abdomen caused by swelling of the liver and/or spleen, among other signs and symptoms.

Typically, an enzyme called glucocerebrosidase (pronounced gloo-ko-ser-e-brosydaze) breaks down GL-1. However, people with Gaucher disease may have some of this enzyme, but not enough to keep up with the amount of GL-1. This causes GL-1 to build up in certain cells, causing the signs and symptoms of Gaucher disease.

If you suspect Gaucher disease, talk to a doctor about getting tested. It’s just a simple blood test.

More than 90% of patients have type 1 Gaucher Disease.

There are 3 types of Gaucher disease.

More than 90% of patients have type 1. Gaucher disease type 1 can be effectively managed once a diagnosis is made.

  • Type 1 is the most common type, and unlike types 2 and 3, type 1 does not usually involve the brain and spinal cord (central nervous system)
  • Type 2 is rare and typically involves severe neurologic (brain) abnormalities
  • Type 3 usually causes the same signs and symptoms as type 1, plus some brain involvement

Signs and Symptoms of Gaucher Disease Type 1

Gaucher disease type 1 is a lifelong condition with diverse symptoms, age of onset, and disease severity, as well as an unpredictable, progressive disease course. Gaucher disease type 1 can affect the blood, visceral organs, and bones. Signs and symptoms can mimic other diseases, and children or adult patients may experience signs and symptoms including:

A deficency in red blood cells called anemia, which may cause bruising, bleeding, or fatigue.

A deficiency in red blood cells (called anemia), which may cause bruising, bleeding, or fatigue

Enlarged liver and spleen, causing a distended or enlarged abdomen.

Enlarged liver and spleen, causing a distended or enlarged abdomen

Bone problems such as delayed growth, bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself.

Bone problems such as delayed growth (in children), bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself

Testing for Gaucher Disease

A doctor may want to test you for Gaucher disease if you present with signs and symptoms that are not explained by other causes. Additionally, since Gaucher disease is an inherited genetic disease, a doctor may want to test you if another family member has been diagnosed with it. If Gaucher disease is suspected, diagnosis can be confirmed via a simple blood test (called an assay) that measures enzyme activity. Laboratories across the United States offer this blood test, and some provide the service free of charge.

Many people are misdiagnosed or assume they were tested. Talk to a Doctor, it’s just a simple blood test. Get tested. For additional information, call Sanofi Genzyme CareConnectPSS at 1-800-745-4447 (Option 3) or visit CareConnectPSS.com.

Treating Gaucher Disease Type 1

While there is no cure, if you have been diagnosed with Gaucher disease type 1, treatment is available to help manage the disease, including oral medicine.

Oral daily medicine which reduces the amount of GL-1 that is produced, allowing the cell's residual enzyme activity to clear it

Substrate Reduction Therapy (SRT)

  • Oral medicine taken daily
  • Reduces the amount of GL-1 that is produced, allowing the cell’s residual enzyme activity to clear it
Intraveneous infusion usually given every 2 weeks. Supplements low levels of the enzyme needed to break down GL-1 with a modified version of the normal human enzyme. Increases body's ability to break down excess GL-1.

Enzyme Replacement Therapy (ERT)

  • Intravenous (IV) infusions usually given every 2 weeks at an infusion center, a doctor’s office, or at home
  • Supplements low levels of the enzyme needed to break down GL-1 with a modified version of the normal human enzyme
    • Increases body’s ability to break down excess GL-1

Most adult patients with Gaucher disease type 1 can begin treatment with an oral therapy, and it is possible for these patients with Gaucher disease type 1 currently being treated with an ERT (infusion) to switch to an oral therapy. Your doctor will know the best course of treatment for you.

Monitoring Gaucher Disease

Regularly scheduled assessments are important for all patients diagnosed with Gaucher disease type 1, regardless of whether you are on treatment or have no symptoms at all. The tests and disease management goals discussed in this presentation come from a set of guidelines developed by Gaucher disease experts from around the world, with funding from Sanofi Genzyme. Your doctor will decide which tests you need and how often, based on your individual symptoms and disease management regimen.

Support Networks

Below are various professional medical organizations, national and international Gaucher disease groups, Gaucher disease education websites, and patient assistance programs that work to support Gaucher disease patients and their families and caregivers.

All information and resources provided by these organizations are operated and maintained by the entity listed below. Please note this list is meant to serve as a general reference and additional resources may also be available through other organizations. With the exception of the specific Sanofi Genzyme* resources listed below, Sanofi Genzyme does not endorse any particular organization or the content and programs they offer.

Caregiver Action Network Caregiver Action Network (CAN) is a family caregiver organization working to improve the quality of life for Americans who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. CAN (the National Family Caregivers Association) is a nonprofit organization providing education, peer support, and resources to family caregivers across the country free of charge.

Courageous Parents Network (CPN) Courageous Parents Network (CPN) is a nonprofit organization created to support, guide and strengthen families as they care for sick children. CPN (Courageous Parents Network) web site provides space for parents to learn from other parents and pediatric care providers across the country as they navigate caregiving and advocate for their loved ones.

Genetic Alliance Genetic Alliance engages individuals, families, and communities to transform health through genetics and provides opportunities to be active participants in health, from services in traditional health settings to groundbreaking research endeavors. They partner with individuals and communities to transform health systems, convene powerful networks, deliver actionable information, build intuitive tools, and drive policy decisions. Genetic Alliance is a 501(c)(3), not-for-profit organization.

Genetic Disease Foundation The Genetic Disease Foundation (GDF) was established in 1997 by patients and families affected by genetic disorders. The Foundation’s mission is to support research, education and the prevention of genetic diseases. The foundation is completely run by volunteers, which enables it to use all of its fundraising dollars to directly fight genetic diseases. GDF is a nonprofit, 501c(3) organization.

National Gaucher Foundation (NGF) The National Gaucher Foundation (NGF) is an independent nonprofit dedicated to serving US patients with Gaucher disease and their families. Through financial support, educational programming, patient services, and collaboration with medical professionals, NGF empowers Gaucher patients to live a better today. The NGF is a 501(c)(3), not-for-profit organization.

National Organization for Rare Disorders (NORD) NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 260 patient organization members, is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. NORD is a nonprofit, 501(c)(3) organization.

Patient Access Network Foundation (PAN) The Patient Access Network (PAN) Foundation is dedicated to helping federally and commercially insured people living with life-threatening, chronic, and rare diseases with the out-of-pocket costs for their prescribed medications. Partnering with generous donors, healthcare providers and pharmacies, PAN provides the underinsured population access to the healthcare treatments they need to best manage their conditions and focus on improving their quality of life. PAN is an independent, national 501(c)(3) organization.

Patient Services, Incorporated (PSI) Patient Services Inc. (PSI) finds solutions to the challenges that face the chronically ill in the United States. PSI provides financial support and guidance for qualified patients with specific, rare, chronic diseases. PSI assistance programs help patients and their families living with an expensive chronic illness afford lifesaving treatment. Patient Services is a 501(c)(3), nonprofit, charitable organization.

Sanofi Genzyme Co-Pay Assistance Program* | Call 1 (800) 745-4447, option 3 The Sanofi Genzyme Co-Pay Assistance Program helps eligible individuals in the United States who are prescribed a Sanofi Genzyme treatment with their drug related out-of-pocket expenses, including co-pays, co-insurance, and deductibles, regardless of financial status. This program is sponsored by Sanofi Genzyme.

Society for Inherited Metabolic Disorders The Society for Inherited Metabolic Disorders (SIMD) aims to increase knowledge of and promote research in inborn errors of metabolism in humans and to stimulate interactions between clinicians and investigators in inborn errors of metabolism. SIMD seeks to foster training and maintenance of a core of qualified investigators and practitioners in the field and to promote public understanding of inborn errors of metabolism. SIMD is a nonprofit professional organization.

*Program/website is owned and operated by Sanofi Genzyme