Achieving Treatment Goals

Your treatment for Type 1 Gaucher (go-SHAY) disease may have started yesterday or years ago. No matter when your treatment began, staying involved in your treatment is an important part of staying well. Playing an active role in your treatment can help you to maximize your health.

It is also important to have specific goals and targets that will help you and your doctor know how well treatment is working. The tests and treatment goals discussed on this page come from a set of guidelines developed by Gaucher disease experts from around the world. Development of these guidelines was supported with funding by Genzyme Corporation.

Treatment, goals, and monitoring help control Type 1 Gaucher disease.

Type 1 Gaucher disease is a lifelong condition caused by the deficiency of a specific enzyme, glucocerebrosidase. It is also progressive in most cases. That means it can get worse with time, especially if not treated. Enzyme replacement therapy (ERT) with Cerezyme replaces the missing enzyme. Cerezyme is indicated for long-term enzyme replacement therapy for pediatric patients and adult patients with a confirmed diagnosis of Type 1 Gaucher disease with one or more of the following conditions: anemia (low red blood cell count), thrombocytopenia (low platelet count), bone disease, hepatomegaly (enlarged liver), or splenomegaly (enlarged spleen).To learn more, read important safety information. Cerezyme is administered by intravenous (IV) infusion. It can help stop and may reverse some of the signs and symptoms of Type 1 Gaucher disease.

To get the most from your treatment, it is important to stick with your schedule for receiving infusions. Also talk with your doctor about:

  • Setting treatment goals — your doctor may decide your individual treatment goals based on experience with many patients or treatment guidelines
  • Monitoring your progress — a series of tests and exams used to check whether you are on track to meet your treatment goals. The tests below provide a way for your doctor and you to check the status of your disease and effectiveness of your treatment plan

You should have comprehensive monitoring tests at least once a year. Even if you are not on treatment and are feeling well, a yearly assessment is a good way to monitor your health.

Gaucher disease often affects bones and the marrow inside them.

You may feel reasonably healthy, yet the damaging effects of Gaucher disease on the bones can be taking place without any notable signs or symptoms.

Over time, the disease can weaken bones and joints. This can cause extreme pain and problems moving and functioning. The illness can also cause bones to break more easily.

Bone problems can become permanent and lead to disability (eg, hip and other joint replacements or spinal compression). This makes it important for you to have thorough tests of your bones at least once a year.

Test #1: X-ray

An x-ray detects fractures and late bone problems. However, it is not the best way to assess changes in the bone marrow, the strength of bones, or early signs of bone disease.

Test #2: Magnetic resonance imaging (MRI) of the bones

MRI uses magnets and radio waves to make pictures of parts of your body. An MRI is the most helpful test to assess to what extent Gaucher cells have built up in the marrow and caused changes in the bone. This makes MRI a powerful and sensitive tool for ongoing monitoring of bone. MRI does not involve use of x-rays.

MRIs are best for showing changes to bone marrow (the spongy tissue inside bones where blood cells form).

Test #3: Dual-energy x-ray absorptiometry (abb-sorp-she-AH-meh-tree) (DEXA)

A buildup of Gaucher cells in bones can make the bones thinner, weaker than normal, and prone to fracture. A DEXA scan measures bone mineral density (BMD), which tells your bone strength. It is the “gold standard” for measuring BMD.

Treatment goals for bone disease

  • Reduce bone pain
  • Prevent bone crises. This is severe pain, usually with fever, caused by a sudden lack of normal blood flow and oxygen to affected bone

Each person’s response to treatment can vary. Patients with advanced bone disease may need additional treatments, such as physical therapy, orthopedic care, and other medicines.

Remember to talk with your doctor about your individual treatment goals.

Take Action Tip

Talk with your doctor about having an x-ray, MRI, and DEXA. Having all 3 will offer more complete information about the health of your bones. Tests should be performed at medical centers with healthcare providers experienced in Gaucher disease. For help finding a healthcare provider or center near you, call Genzyme Treatment Support at 1-800-745-4447 (option 3)

Checking your blood

Gaucher disease can affect your blood in many ways.

  • A buildup of Gaucher cells can affect your bone marrow, where blood cells are formed, by interfering with the production of your blood cells
  • In Gaucher disease, the spleen becomes enlarged and overactive, breaking down too many red blood cells. This may lead to anemia (uh-NEEM-ee-yah). Anemia can make you feel fatigued. People often describe feeling tired or weak, being breathless, or lacking energy
  • An overactive spleen can reduce blood platelets (PLATE-lets). This can make it harder for your blood to clot. For this reason, you might bruise and bleed easily
  • An overactive spleen lessens the number of available white blood cells. These cells help your body fight infection. Fewer white blood cells may lead to more infections

Having regular blood tests can help your doctor find and treat problems early.

Test #4: Hemoglobin test

This blood test measures the total amount of hemoglobin (HEEM-oh-globe-in) in your blood. Hemoglobin, a part of red blood cells, carries oxygen. A low hemoglobin level is a sign of anemia.

Test #5: Platelet count

This blood test measures the number of platelets in the blood. Platelets are needed for clotting blood. A low platelet count may cause bruising and bleeding.

Test #6: Biochemical evaluations

These are special blood tests that can pick up subtle changes in the disease and are useful for some patients. They can help check your progress toward achieving the goals of your treatment plan. Among the markers your healthcare providers may check are:

  • Chitotriosidase (KI-toe-try-O-sih-days)
  • Angiotensin-converting enzyme (ACE)
  • Tartrate-resistant acid phosphatase (TRAP)

Treatment goals for blood

  • Increase hemoglobin levels to:
    • 11 grams per deciliter or higher for women and children
    • 12 grams per deciliter or higher for men
  • Eliminate blood transfusion dependency
  • Reduce fatigue
  • Maintain improved Hb levels

Remember to talk with your doctor about your individual treatment goals.

Take action Tip

When you have blood tests and other tests done, you may want to ask when your results will come back from the lab. Then, mark your calendar to remember the date. Consider calling to talk about your results and find out if you can receive a copy. It may be helpful to write a list of your questions to prepare for the call, including:

  • How are these results different from past results?
  • What do these results mean for my treatment?
  • How close am I to my treatment goals?
  • Does my treatment need to be adjusted?

An enlarged spleen and/or liver is very common in Type 1 Gaucher disease.

The spleen can swell to 75 times its normal size or more. This can make people look overweight or pregnant. Increased bleeding, such as nosebleeds, bleeding gums, or heavy menstrual periods can result from the increased activity of an enlarged spleen. An enlarged spleen can also make a person feel full after eating only small amounts of food.

The liver can also enlarge up to 2½ times its normal size. This can limit blood flow, causing severe pain and leading to fibrosis (scarring) of the liver.

Your healthcare provider may recommend the following tests. They can help determine if Gaucher disease is affecting your liver or spleen. To best assess your liver and spleen, a physical exam should be combined with these tests.

Treatment goals for the liver and spleen

  • Reduce and maintain liver volume to 1 to 1½ times its normal size
  • Reduce and maintain spleen volume to 2 to 8 times its normal size
  • Lessen symptoms, such as abdominal pain and feeling full and bloated

Remember to talk with your doctor about your individual treatment goals.

The size of the liver and/or spleen may not decrease to normal in patients with very enlarged organs, because of scarring.

Test #7: MRI or Computed tomography (CT) of the liver and spleen

These painless tests produce pictures of the inside of the abdomen. They can show the size and structure of the spleen and liver.

Assess your well-being

Type 1 Gaucher disease can affect many aspects of your life.

You may find it painful to do normal activities or even to sleep. You may feel tired after a full night’s sleep. You may also find it difficult to cope with changes to the way you look. Your healthcare team needs to know how the disease is affecting your well-being. To do that, your doctor or nurse may regularly ask you several questions about changes in the quality of your daily life.

Your healthcare provider may ask you the following questions in an informal way or give you a paper questionnaire, called an SF-36© Health Survey, to complete. Some of the questions and possible responses include:

  • How would you rate your health today?
    (excellent, good, fair, poor)
  • How does your health today compare with your health last year?
    (same, better, worse)
  • How does your health affect your ability to do certain activities?
    (limited a lot, a little, not at all)

Your answers can help your medical team discuss the impact of the disease with you and suggest strategies to help you cope.

If you have any concerns, make a list of your questions to discuss with members of your healthcare team.

Take Action Tip

Taking control can help you reach your goal of having better health.

Sticking to your infusion schedule, setting treatment goals, and having periodic monitoring tests are important in managing Type 1 Gaucher disease.

How Cerezyme can help

Cerezyme has been shown to help reduce, relieve or reverse some symptoms of Type 1 Gaucher disease.

Some symptoms may improve within months. Others may take longer to improve. Patients with more advanced disease may have symptoms that do not fully resolve, even with treatment. Early diagnosis and treatment (if indicated), combined with regular monitoring, are the best approaches in managing Type 1 Gaucher disease. Just as each patient is unique, results may be different for everyone.

Designing your personal treatment plan

  • The initial dosage of Cerezyme is based on the severity of your signs and symptoms. The dose is calculated as units per kilogram of body weight
  • Your healthcare provider will perform a complete evaluation to determine the best dosage for you
  • As your treatment continues, your doctor will evaluate your health on an ongoing basis
  • Your doctor may adjust your dosage depending on your treatment response or as needed

Be sure to talk with your healthcare provider about your plan, your test results, and any questions you may have.

Indication & Usage

Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:

  1. anemia (low red blood cell count)
  2. thrombocytopenia (low blood platelet count)
  3. bone disease
  4. hepatomegaly or splenomegaly (enlarged liver or spleen)

Important Safety Information

Approximately 15% of patients have developed immune responses (antibodies) to Cerezyme during the first year of therapy. These patients have a higher risk of an allergic reaction (hypersensitivity). Your doctor may periodically test for the presence of antibodies. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients. Symptoms suggestive of allergic reaction happened in approximately 7% of patients, and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.

High blood pressure in the arteries of the lungs (pulmonary hypertension) and pneumonia have been observed in less than 1% of patients during treatment with Cerezyme. These are also known complications of Gaucher disease regardless of treatment. If you experience symptoms such as shortness of breath or chest pain, with or without fever, contact your doctor.

Approximately 14% of patients have experienced side effects related to treatment with Cerezyme. Some of these reactions occur at the site of injection such as discomfort, itching, burning, swelling or uninfected abscess. Other side effects, each of which was reported by less than 2% of patients, include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Temporary swelling in the legs has also been observed with drugs like Cerezyme.

Please see Full Prescribing Information (PDF).

Within 4 years of initiating Cerezyme therapy, 93% of patients in the Gaucher Registry met at least 4 of 6 treatment goals.*
* Weinreb N et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83(12):890–895.