Gaucher inheritance

Gaucher disease is hereditary, which means that the genes for the disease are passed from one generation to the next. A person with just one gene for Gaucher disease is a carrier. Carriers do not develop the disease but can pass the gene on to their children.

Explore the instances of carriers or when Gaucher disease is present below

BOTH PARENTS
ARE CARRIERS
ONE PARENT
IS A CARRIER
ONE PARENT HAS
GAUCHER DISEASE
ONE PARENT HAS GAUCHER
DISEASE, ONE IS A CARRIER

When both parents are
carriers, there is:

• A 50% (1 in 2) chance of a child also being a carrier
• A 25% (1 in 4) chance with each pregnancy that a child will have Gaucher disease
• A 25% (1 in 4) chance a child will be unaffected

Chart showing the inheritance of Gaucher disease when both parents are carriers

When one parent is a
carrier, there is:

• A 50% (1 in 2) chance a child will be a carrier
• A 50% (1 in 2) chance a child will be unaffected

Chart showing the inheritance of Gaucher disease when one parent is a carrier

When one parent has
Gaucher disease, there is:

• A 100% chance a child will be a carrier

Chart showing the inheritance of Gaucher disease when one parent has Gaucher disease

When one parent has
Gaucher disease and
one is a carrier there is:

• A 50% (1 in 2) chance a child will have Gaucher disease
• A 50% (1 in 2) chance a child will be a carrier

Chart showing the inheritance of Gaucher disease when one parent has Gaucher disease and one is a carrier

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change,
no matter how many children the parents have.

Indication & Usage

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 causean 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 Patient Medication Guide.

Gaucher inheritance

Explore the instances of carriers or when Gaucher disease is present below

When both parents are carriers, there is:

When one parent is a carrier, there is:

When one parent has Gaucher disease, there is:

When one parent has Gaucher disease and one is a carrier there is:

When both parents are
carriers, there is:

When one parent is a
carrier, there is:

When one parent has
Gaucher disease, there is:

When one parent has
Gaucher disease and
one is a carrier there is: