If you or a loved one has Gaucher disease type 1 (pronounced go-SHAY), the good news is that the disease is treatable. Treatment can also address some of the symptoms of Gaucher disease type 3, but not the neurological (brain stem) symptoms. Current options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
Enzyme Replacement Therapy (ERT)
Enzyme replacement therapy (ERT) balances low levels of GCase enzyme with a modified version of the normal human enzyme. This allows your body to break down glucocerebroside, a fatty chemical that builds up in organs and bone marrow.
Patients receive ERT via intravenous (IV) infusion about every 2 weeks, either at an infusion center or at home. The U.S. Food and Drug Administration (FDA) has approved 3 different ERT drugs for Gaucher disease:
Learn more about enzyme replacement therapy for Gaucher disease.
Substrate Reduction Therapy (SRT)
SRT works differently from ERT. Instead of restoring low levels of GCase enzyme, SRT reduces the amount of glucocerebroside produced by the body. This process decreases the work the body’s enzyme must do by giving it less glucocerebroside to break down. SRTs are oral medications.
There are currently 2 FDA-approved oral SRT drugs for patients with Gaucher disease:
SRTs are only available for certain patients due to the unique way the drugs behave in the body. For instance, SRTs are not approved for use in people under 18 or women who are breastfeeding, pregnant or trying to become pregnant. Learn more about whether you can receive substrate reduction therapy for Gaucher disease.
Receiving ERT at an Infusion Center
Infusion centers are facilities that specialize in IV infusions. Many patients receive ERT at infusion centers, but the process can be time-consuming due to traveling and waiting for staff to prepare the medication. Still, many patients prefer the familiarity of infusion centers and friendly staff. Learn more about receiving enzyme replacement therapy for Gaucher disease at an infusion center.
Receiving ERT at a Gaucher Disease Treatment Center
Patients may also receive ERT infusions at Gaucher disease treatment centers in certain hospitals and physicians’ offices. Specialists at Gaucher disease treatment centers can help track your health, monitor symptoms and adjust your dosage as necessary.
While going to a treatment center still involves travel and waiting time, it may be more convenient in terms of allowing you to combine appointments. You can locate one of these specialized facilities with our Gaucher disease treatment finder.
ERT Home Infusions
You may be able to receive ERT from the comfort of home with the help of a home health nurse. Many patients find home infusions more convenient. One disadvantage is not having extra staff on hand if complications arise.
While not all insurance policies cover home infusions, pharmaceutical case managers can help you navigate your insurance coverage. Pharmaceutical case managers help answer patient questions, and you can contact one through the pharmaceutical company that manufactures your ERT medication. Learn more about home infusions for enzyme replacement therapy for Gaucher disease.
Treating the Symptoms of Gaucher Disease
In addition to ERT and SRT, which address enzyme deficiency and glucocerebroside accumulation, you may need other treatments for symptoms and complications of Gaucher disease.
These treatments include:
- Blood transfusions for severe anemia and bleeding
- Prescription drugs for bone pain and osteoporosis
- Orthopedic surgery such as joint replacement for painful, damaged joints
Find a Specialist in Gaucher Disease
It is essential to work with a Gaucher specialist who can help you determine your best treatment option and manage your symptoms. Find a specialist with our Gaucher disease treatment finder.
Other helpful resources for genetic counseling services include:
- Center for Jewish Genetics: The Center for Jewish Genetics is an educational resource for hereditary cancers and Jewish genetic disorders. The center offers subsidized genetic counseling and screening.
- Victor Center for the Prevention of Jewish Genetic Diseases: The Victor Center for the Prevention of Jewish Genetic Diseases provides affordable genetic counseling and screening for healthy people who are at risk of being carriers.
- JScreen: JScreen is a nonprofit public health initiative that provides easy home test kits for people of Jewish descent. Genetic counselors from Emory University School of Medicine assess the results and provide additional information and resources.
- National Society of Genetic Counselors: The National Society of Genetic Counselors is an online directory where you can search for a genetic counselor in your area.