TREATMENT OPTIONS  

Gaucher disease type 1 (GD1) treatment options

While there is no cure, there are treatment options to help manage the signs and symptoms of GD1. The treatment goal for GD1 is to reduce or prevent the buildup of GL-1. Treatment outcomes may vary among patients.

Two treatment approaches for GD1:

ERT treatment

Enzyme Replacement Therapy (ERT)

  • Adds a modified version of the enzyme to help your body break down GL-1
  • Intravenous (IV) infusions usually given every 2 weeks at an infusion center, a doctor’s office, or at home as medically appropriate. (Infusion takes approximately 1 to 2 hours.)
SRT treatment

Substrate Reduction Therapy (SRT)

  • Reduces the amount of GL-1 that is produced
  • Oral medicine taken daily

Most adult patients newly diagnosed with GD1 can begin treatment with an oral therapy. It is possible for most adult patients with GD1 currently being treated with an ERT (infusion) to switch to a substrate reduction oral therapy. Your doctor can discuss the best course of treatment for you. 

woman smiling

GL-1=glucosylceramide.

CERDELGA OVERVIEW

patient smiling

Choose Cerdelga

Cerdelga is the ONLY first-line oral therapy indicated for the long-term treatment of most adults with GD1. 

Cerdelga is a substrate reduction therapy (SRT). Instead of replacing the enzyme that breaks down GL-1, SRT reduces GL-1 production. In doing so, people with GD1 can use any available active enzyme remaining in their body to break down GL-1.

Cerdelga comes in a capsule. It is taken by mouth either once or twice daily.

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“I’m more than my disease—I am a father with many responsibilities and great hope for the future. My doctor and I talk about my daily routine and my goals, my travel plans, etc, not just my test results, and that makes all the difference.”

 Mike, a patient with GD1 treated with Cerdelga

CERDELGA MECHANISM OF ACTION

How does Cerdelga work to help treat GD1?

Cerdelga works by reducing GL-1 production in patients with GD1. Watch this video about how Cerdelga works.  

    CERDELGA® (eliglustat) is a prescription medicine used for the long-term treatment of Gaucher disease type 1 in adults who are CYP2D6 extensive metabolizers, intermediate metabolizers, or poor metabolizers as detected by an FDA-cleared test. Your doctor will perform a test to make sure that CERDELGA is right for you.

    CYP2D6 ultra-rapid metabolizers may not achieve adequate concentrations of CERDELGA to achieve a therapeutic effect.

    A specific dose cannot be recommended for CYP2D6 indeterminate metabolizers.

    Gaucher disease, the most common lysosomal storage disorder, is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide, or GL-1, to build up throughout the body.

    GL-1 is made inside the cells by an enzyme called glucosylceramide synthase, or GCS. GL-1 plays an important role in how cells work.

    The lysosome is a part of the cell that helps to break down large components of worn out or damaged cells, among other functions.

    GL-1 is normally broken down in the lysosome by an enzyme called glucocerebrosidase. This process helps to maintain balance inside the cells.

    But people with Gaucher disease type 1 do not have enough working enzyme to keep up with the amount of GL-1 being made.

    This causes GL-1 to build up in certain cells throughout the body.

    The accumulation of Gaucher cells in the liver, spleen, bone marrow, and other organs result in the signs and symptoms of Gaucher disease.

    Treatments are available to help manage some of the signs and symptoms of Gaucher disease type 1, including oral therapies. Oral options include a type of medicine called substrate reduction therapy, or SRT. CERDELGA (eliglustat) is a first line oral SRT for patients with Gaucher disease type 1 who are untreated or want to switch from ERT infusions.

    Cerdelga is an oral medication called a substrate reduction therapy, or SRT. It reduces the amount of GL-1 that is produced, resulting in less GL-1 buildup.


    Cerdelga is taken daily by mouth at home. Cerdelga blocks GCS, which slows down the production of GL-1. The amount of GL-1 being made is now more manageable for the body’s remaining enzyme to clear it from the cells.

    By reducing the amount of GL-1 being made, Cerdelga helps to restore balance inside the cells and lessen the amount of GL-1 buildup in the liver, spleen, and blood.

    Before your doctor can decide if Cerdelga is right for you, he or she will need to know your “CYP2D6 metabolizer status.” This can be done with a simple blood test at no cost to you.

    CYP2D6 is an enzyme that plays an important role in breaking down, or metabolizing, certain drugs, including Cerdelga inside the body.

    The type of metabolizer you are determines how fast your body breaks down drugs. It will affect the amount of active Cerdelga in your body available to block GL-1 production.

    Your dose of Cerdelga is based on your CYP2D6 metabolizer status. People who break down drugs faster would need to take Cerdelga more often to make sure they have enough medicine in the body at all times.

    However, ultra-rapid metabolizers should not use Cerdelga because they break down the drug rapidly and may not benefit from it. Those whose metabolizer status cannot be determined should not use Cerdelga because a specific dosage cannot be recommended.

    Cerdelga is not an infusion. Cerdelga capsules are taken orally with a full glass of water, whether at home or on the go.


    IMPORTANT SAFETY INFORMATION

    Certain patients should not use CERDELGA based on their CYP2D6 metabolizer status due to an increased risk of side effects, including heart problems. Do not use CERDELGA if you are:

    • An Extensive Metabolizer (EM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an EM with moderate or severe liver problems, or an EM with mild liver problems and taking a medicine that is a strong or moderate CYP2D6 inhibitor.
    • An Intermediate Metabolizer (IM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an IM taking a medicine that is a strong CYP3A inhibitor, or an IM with any degree of liver problems.
    • A Poor Metabolizer (PM) taking a medicine that is a strong CYP3A inhibitor, or a PM with any degree of liver problems.

    Your doctor will perform a test to help determine if CERDELGA is right for you.

    CERDELGA can affect the way other medicines work and other medicines can affect how CERDELGA works. Using CERDELGA with other medicines or herbal supplements may cause an increased risk of side effects, including changes in electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Especially tell your doctor if you take St. John’s Wort, or medicines for fungal infections, tuberculosis, seizures, heart conditions, high blood pressure, or depression or other mental health problems. Your doctor may need to prescribe a different medicine, change your dose of other medicines, or change your dose of CERDELGA. Tell your doctor about all of the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements before you start taking them.

    Before taking CERDELGA, tell your doctor about all of your medical conditions, including heart problems (including a condition called long QT syndrome), a history of heart attack, kidney or liver problems. If you are pregnant or plan to become pregnant or breastfeed, talk to your doctor. It is not known if CERDELGA will harm your unborn baby. Talk to your doctor if you are breastfeeding or planning to breastfeed. It is not known if CERDELGA passes into your breast milk. You and your doctor will decide if you should take CERDELGA or breastfeed. You should not do both.

    CERDELGA, used with certain other medicines, may cause changes in the electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Tell your doctor if you have new symptoms such as palpitations, fainting, or dizziness.

    The most common side effects (≥10%) of CERDELGA include: tiredness, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain. Call your doctor for medical advice about adverse effects.

    Tell your doctor if you have any side effect that bothers you or that does not go away. These are not all the possible side effects of CERDELGA. Call your doctor for medical advice about side effects.


    It is not known if CERDELGA is safe and effective in children.

    Talk to your doctor about starting or switching to Cerdelga.
    For more information about Cerdelga, visit
    www.cerdelga.com.

    Please see the full Prescribing Information, including Patient Medication Guide.

STARTING CERDELGA

Starting Cerdelga

Cerdelga can be prescribed to most adult patients with GD1—whether they are new to treatment or are switching from ERT. If you are switching from ERT to Cerdelga, you may be able to begin taking Cerdelga within 24 hours after your last infusion.

Cerdelga is primarily broken down (metabolized) by an enzyme in the liver called CYP2D6. The rate at which a person's body breaks down medications such as Cerdelga is referred to as their "CYP2D6 metabolizer status."

man and woman talking

More than 90% of adult patients tested for CYP2D6 status are eligible for Cerdelga.

Determining Eligibility

Knowing your CYP2D6 metabolizer status is the first step toward determining if Cerdelga is right for you. Your doctor will perform a blood test known as a “CYP2D6 genotype test” to identify if you are 1 of the 3 metabolizers eligible for Cerdelga.

Cerdelga is indicated for 3 of the 4 main types of metabolizers

green checkmark

POOR
METABOLIZERS (PMs)

green checkmark

INTERMEDIATE
METABOLIZERS (IMs)

green checkmark

EXTENSIVE
METABOLIZERS (EMs)

red x

ULTRA-RAPID
METABOLIZERS (URMs)

Your doctor will determine a specific Cerdelga dose based on how CYP2D6 works in your body and other factors. Some people (ultra-rapid metabolizers) should not use Cerdelga because they break down the drug rapidly and may not benefit from it. A specific dosage cannot be recommended for those whose CYP2D6 metabolizer status cannot be determined (indeterminate metabolizers).

doctor

Talk to your doctor if you have questions about the blood test or your CYP2D6 metabolizer status.

Side effects

What are the possible side effects of Cerdelga (eliglustat)?

Cerdelga, used with certain other medicines, may cause changes in the electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Tell your doctor if you have new symptoms such as palpitations, fainting, or dizziness.

The most common side effects of Cerdelga include tiredness, headache, nausea, diarrhea, and pain in the arms, legs, back, or stomach (abdomen).

Tell your healthcare provider about any side effects you experience.

Before taking Cerdelga

Important Information to Know

Cerdelga can affect the way other medicines work and other medicines can affect how Cerdelga works. Using Cerdelga with other medicines or herbal supplements may cause an increased risk of side effects. Your doctor may need to prescribe a different medicine, change your dose of other medicines, or change your dose of Cerdelga. Tell your doctor about any new medicines before you start taking them. Especially tell your doctor if you take:

  • St. John's Wort (Hypericum perforatum)
  • Medicine for:
    • Fungal infections
    • Tuberculosis
    • Seizures
    • Heart conditions or high blood pressure
    • Depression or other mental health problems

Before taking Cerdelga, tell your doctor about all of your medical conditions, including all heart problems (including a condition called long QT syndrome), history of heart attack, and kidney or liver problems. Tell your doctor if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed. The fullImportant Safety Information and full Prescribing Information can provide you with additional information about Cerdelga safety considerations.

Dosing

by mouth once or twice per day

Cerdelga is a capsule taken by mouth either once or twice per day. Your dose will depend on the kind of metabolizer you are as well as other factors. If Cerdelga is right for you, you may be able to switch from an ERT 24 hours after your last infusion.

Important things to know about taking Cerdelga

glass of water with a green check

Take Cerdelga exactly as your doctor tells you to take it. Swallow the capsule whole, preferably with water, while sitting upright.

open capsule with a red x

DO NOT open, crush, or dissolve capsules before swallowing. If you have trouble swallowing the capsules, tell your doctor.

grapefruit slice with a red x

Cerdelga may be taken with or without food, but avoid eating or drinking grapefruit products while taking Cerdelga. Grapefruit products can increase the amount of Cerdelga in your body.

clock with a green check

If you miss a dose of Cerdelga, take the next dose at the usual time. DO NOT take 2 doses of Cerdelga at the same time.

If you take too much Cerdelga, call your doctor or go to your nearest emergency room right away.

Ready to start or switch to Cerdelga?

Get a patient checklist and important reminders to bring to your next doctor appointment. 

Interested in how Cerdelga compares with ERT?

See efficacy and safety data from switch-patient clinical trials.

Indication

CERDELGA is a prescription medicine used for the long-term treatment of Gaucher disease type 1 (GD1) in adults who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test. Your doctor will perform a test to make sure that CERDELGA is right for you.

Limitations of Use:

  • CYP2D6 ultra-rapid metabolizers may not achieve adequate concentrations of CERDELGA to achieve a therapeutic effect.
  • A specific dose cannot be recommended for CYP2D6 indeterminate metabolizers.

Important Safety Information

Certain patients should not use CERDELGA based on their CYP2D6 metabolizer status due to an increased risk of side effects, including heart problems. Do not use CERDELGA if you are:

  • An Extensive Metabolizer (EM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an EM with moderate or severe liver problems, or an EM with mild liver problems and taking a medicine that is a strong or moderate CYP2D6 inhibitor.
  • An Intermediate Metabolizer (IM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an IM taking a medicine that is a strong CYP3A inhibitor, or an IM with any degree of liver problems.
  • A Poor Metabolizer (PM) taking a medicine that is a strong CYP3A inhibitor, or a PM with any degree of liver problems.

Your doctor will perform a test to help determine if CERDELGA is right for you.

CERDELGA can affect the way other medicines work and other medicines can affect how CERDELGA works. Using CERDELGA with other medicines or herbal supplements may cause an increased risk of side effects, including changes in electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Especially tell your doctor if you take St. John's Wort, or medicines for fungal infections, tuberculosis, seizures, heart conditions, high blood pressure, or depression or other mental health problems. Your doctor may need to prescribe a different medicine, change your dose of other medicines, or change your dose of CERDELGA. Tell your doctor about all of the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements before you start taking them.

Before taking CERDELGA, tell your doctor about all of your medical conditions, including heart problems (including a condition called long QT syndrome), a history of heart attack, kidney or liver problems. If you are pregnant or plan to become pregnant or breastfeed, talk to your doctor. It is not known if CERDELGA will harm your unborn baby. Talk to your doctor if you are breastfeeding or planning to breastfeed. It is not known if CERDELGA passes into your breast milk. You and your doctor will decide if you should take CERDELGA or breastfeed. You should not do both.

CERDELGA, used with certain other medicines, may cause changes in the electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Tell your doctor if you have new symptoms such as palpitations, fainting, or dizziness.

The most common side effects (≥10%) of CERDELGA include: tiredness, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain. Call your doctor for medical advice about adverse effects.

Tell your doctor if you have any side effect that bothers you or that does not go away. These are not all the possible side effects of CERDELGA. Call your doctor for medical advice about side effects.

It is not known if CERDELGA is safe and effective in children.

Please see the full Prescribing Information, including the Patient Medication Guide, for CERDELGA.

Indication

CERDELGA is a prescription medicine used for the long-term treatment of Gaucher disease type 1 (GD1) in adults who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test. Your doctor will perform a test to make sure that CERDELGA is right for you.

Limitations of Use:

  • CYP2D6 ultra-rapid metabolizers may not achieve adequate concentrations of CERDELGA to achieve a therapeutic effect.
  • A specific dose cannot be recommended for CYP2D6 indeterminate metabolizers.

Important Safety Information

Certain patients should not use CERDELGA based on their CYP2D6 metabolizer status due to an increased risk of side effects, including heart problems. Do not use CERDELGA if you are:

  • An Extensive Metabolizer (EM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an EM with moderate or severe liver problems, or an EM with mild liver problems and taking a medicine that is a strong or moderate CYP2D6 inhibitor.
  • An Intermediate Metabolizer (IM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or moderate CYP3A inhibitor, an IM taking a medicine that is a strong CYP3A inhibitor, or an IM with any degree of liver problems.
  • A Poor Metabolizer (PM) taking a medicine that is a strong CYP3A inhibitor, or a PM with any degree of liver problems.

Your doctor will perform a test to help determine if CERDELGA is right for you.

CERDELGA can affect the way other medicines work and other medicines can affect how CERDELGA works. Using CERDELGA with other medicines or herbal supplements may cause an increased risk of side effects, including changes in electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Especially tell your doctor if you take St. John's Wort, or medicines for fungal infections, tuberculosis, seizures, heart conditions, high blood pressure, or depression or other mental health problems. Your doctor may need to prescribe a different medicine, change your dose of other medicines, or change your dose of CERDELGA. Tell your doctor about all of the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements before you start taking them.

Before taking CERDELGA, tell your doctor about all of your medical conditions, including heart problems (including a condition called long QT syndrome), a history of heart attack, kidney or liver problems. If you are pregnant or plan to become pregnant or breastfeed, talk to your doctor. It is not known if CERDELGA will harm your unborn baby. Talk to your doctor if you are breastfeeding or planning to breastfeed. It is not known if CERDELGA passes into your breast milk. You and your doctor will decide if you should take CERDELGA or breastfeed. You should not do both.

CERDELGA, used with certain other medicines, may cause changes in the electrical activity of your heart (ECG changes) and irregular heart beat (arrhythmias). Tell your doctor if you have new symptoms such as palpitations, fainting, or dizziness.

The most common side effects (≥10%) of CERDELGA include: tiredness, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain. Call your doctor for medical advice about adverse effects.

Tell your doctor if you have any side effect that bothers you or that does not go away. These are not all the possible side effects of CERDELGA. Call your doctor for medical advice about side effects.

It is not known if CERDELGA is safe and effective in children.

Please see the full Prescribing Information, including the Patient Medication Guide, for CERDELGA.