Gaucher disease

Treatment

Is there an FDA approved therapy for Gaucher disease?

Gaucher disease has several FDA approved treatments. The main treatment used in Gaucher disease is enzyme replacement therapy (ERT) which is given to replace the missing enzyme in Gaucher disease. In the United States, there are 3 approved enzyme replacement therapies available. Substrate reduction therapy (SRT) is also an FDA approved therapy option. Unfortunately, no therapy is available that crosses the blood-brain barrier so no treatment is capable of fixing the neurological symptoms found in types 2 and 3 Gaucher disease.

Due to the different approval processes around the globe, not all products may be available in your country.

References
  • Gaucher disease [Internet]. National Disorders of Rare Diseases [updated 2014]. Available from: http://rarediseases.org/rare-diseases/gaucher-disease/
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More Treatment Content

What is enzyme replacement therapy for Gaucher disease?

What are the down side of ERT with Cerezyme?

What is the difference between imiglucerase (Cerezyme®) generated in Chinese hamster ovary cells; velalglucerase alfa (VPRIV®)?

Is there a pill to treat Gaucher disease?

What are the symptom based treatments for Gaucher disease?

What are some tests to monitor how effective the therapy is in Gaucher disease?

What is the role of bone marrow transplantation in treating Gaucher disease?

Is there gene therapy for Gaucher disease?

Are there medications a patient with Gaucher disease should avoid?

What is the role of gene therapy in treating Gaucher disease?

What is enzyme replacement therapy for Gaucher disease?

Enzyme replacement therapy (ERT) works by providing the body with synthetic (artificial/man-made) enzyme to clear the stored waste product (fat) that has built up in the body's cells (the lysosome) causing the symptoms of Gaucher disease. Regular intravenous (IV) infusions of the recombinant enzymes (ERT) have been demonstrated to be safe and effective in reversing those features resulting from hematologic (blood) and visceral (liver/spleen) involvement. ERT is well tolerated. Individuals with type 1 Gaucher disease report improved health-related quality of life after 24-48 months of ERT.

References
  • Weinreb N, Barranger J, Packman S, et al. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007;71:576-88.
What are the down side of ERT with Cerezyme?

Patients on enzyme replacement therapy (ERT) are usually dependent on this treatment for life. Some individuals can have infusion-related reactions to ERT, but these are typically mild and do not occur that frequently. ERT also involves Intravenous (IV) administration, which the patient may have to receive from a treatment center and requires administration by a nurse. ERT is also very costly. However, home therapy is an available option in many countries. Talk to your doctor to determine if this is an option for you.

References
  • National Gaucher Foundation Inc. [Internet] [updated 2016]. Available from: http://www.gaucherdisease.org/
What is the difference between imiglucerase (Cerezyme®) generated in Chinese hamster ovary cells; velalglucerase alfa (VPRIV®)?

In the United States, there are three recombinant glucocerebrosidase enzyme preparations currently available. All are based on the human gene sequence, but are distinguished according to the cell types involved in their production: imiglucerase (Cerezyme®) generated in Chinese hamster ovary cells; velalglucerase alfa (VPRIV®) from human fibroblast-like cell line; and taliglucerase alfa (Elelyso®) from a carrot cell line. The experience with all three types of ERT appears comparable.

Not all countries have the same approved products. Check with your physician to determine which products are available in your specific country.

References
  • Ben Turkia H, Gonzalez DE, Barton NW, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013;88:179-84.
Is there a pill to treat Gaucher disease?

Substrate reduction therapy (SRT) works by reducing the amount of fat (GL1 substrate) made by the body that will eventually be turned into waste products. The goal is to limit the fat buildup (GL1 substrates) to a level that can be effectively cleared by the naturally occurring enzyme (all living people with Gaucher disease have a little enzyme) with residual activity. As SRT is a small molecule, the benefit is an oral medication.

Miglustat is recommended as a treatment alternative for those with hypersensitivity to ERT or poor venous access (problems with multiple need sticks).

Ceredelga is a first-line therapy for the treatment of adult patients with Gaucher disease.

References
  • Dwek RA, Butters TD, Platt FM, Zitzmann N. Targeting glycosylation as a therapeutic approach. Nat Rev Drug Discov. 2002;1:65-75.
What are the symptom based treatments for Gaucher disease?

Symptom based treatments for Gaucher disease include:

  • Analgesics for bone pain
  • Joint replacement surgery for relief from chronic pain and restoration of function
  • Bisphosphanates (e.g. Boniva) and calcium for osteoporosis
  • Prophylactic antibiotics
  • Blood transfusions
References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
What are some tests to monitor how effective the therapy is in Gaucher disease?

The following tests are used to monitor the effectiveness of Gaucher disease therapy:

  • MRI or ultrasound to measure liver and spleen volume to monitor the size of the liver and spleen
  • Complete blood count to evaluate platelets levels and monitor anemia
  • Gaucher Biomakers: Chitotriosidase activity, TRAP, and ACE

Therapeutic Goals were developed many years ago to help clinicians and patients monitor their progress when receiving treatment for Gaucher disease. These guidelines determine if you are responding appropriately to therapy.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
What is the role of bone marrow transplantation in treating Gaucher disease?

Bone marrow transplantation (BMT) has been undertaken in individuals with severe Gaucher disease, primarily those with chronic neurologic involvement (type 3 Gaucher disease). Successful BMT can correct the metabolic defect, improve blood counts, and reduce increased liver volume. In a few individuals, stabilization of neurologic and bone disease has occurred; however, the morbidity and mortality associated with BMT limit its use in individuals with type 1 and type 3 Gaucher disease. Therefore, this procedure has been largely superseded by enzyme replacement therapy.

However, in developing countries, a BMT may be an alternative and should be considered only when other treatment options are not available.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
Is there gene therapy for Gaucher disease?

Gene therapy involves the introduction of GBA into hematopoietic stem cells. There is quite an interest in gene therapy for the treatment of lysosomal storage disorders. Clinical Trials. gov (www.clinicaltrials.gov) provides the most up-to-date information on clinical trials in this exciting field.

References
  • Enquist IB, Nilsson E, Ooka A. et al. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci U S A. 2006;103:13819-24.
Are there medications a patient with Gaucher disease should avoid?

Nonsteroidal anti-inflammatory drugs (NSAIDs) should be avoided in individuals with moderate to severe thrombocytopenia.

References
  • Gaucher disease. [Internet]. Gene Reviews [updated May 14. 2015]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1269/
What is the role of gene therapy in treating Gaucher disease?

Chaperone-mediated enzyme enhancement therapy uses pharmacologic chaperones, which serve as a folding template for the defective enzyme. Such agents may restore enzyme activity and clear stored substrate. The drug isofagamine, which has been shown to exhibit these properties in research studies, is currently in clinical trials to establish its safety and efficacy when given to adults with type 1 Gaucher disease.

References
  • Steet R, Chung S, Lee WS, Pine CW, Do H, Kornfeld S. Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Biochem Pharmacol. 2007;73:1376-83.

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