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... View more

What is Gaucher disease?

Gaucher disease type 1 is a rare, progressive, genetic disease that causes many
different symptoms; however, it can be appropriately managed.

Nate, USA, patient with Gaucher disease type 1 treated with Cerdelga

Understanding Gaucher disease

Gaucher (pronounced go-shay) disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil-sara-mide, also called GL-1) to build up in certain organs or bones.

As GL-1 builds up, people with Gaucher disease type 1 may experience excessive bruising and bleeding, and protruding abdomen caused by swelling of the liver and/or spleen.

More than 90% of Gaucher Disease patients have type 1
MORE THAN 90% OF GAUCHER DISEASE PATIENTS HAVE TYPE 1

There are 3 types of Gaucher disease. Gaucher disease type 1 can be effectively managed once a diagnosis is made.

The buildup of GL-1 affects different systems throughout your body—primarily blood and organs like the liver, spleen, and bones.

Patients may experience:

A deficiency in red blood cells (called anemia), which may cause fatigue
A deficiency in red blood cells (called anemia), which may cause fatigue
Reduced blood clotting cells (platelets), which makes it harder for your blood to clot and may cause bruising or bleeding
Reduced blood clotting cells (platelets), which makes it harder for your blood to clot and may cause bruising or bleeding
Enlarged spleen and liver are some of the signs and symptoms of Gaucher disease
Enlarged liver and spleen, causing a distended or enlarged abdomen
The skeletal system may be affected by Gaucher disease
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

It is the accumulation of GL-1 that causes the signs and symptoms of the disease. However, some patients may not show any symptoms at all despite their disease progressing.

Timely Diagnosis is important for early treatment

DIAGNOSIS

Early diagnosis is important for
timely treatment.

Find out more

A noninvasive, oral prescription therapy

TREATMENT OPTIONS

Gaucher disease type 1 is manageable. Treatment options include oral therapy.

Find out more