Prevention and Treatment of Gaucher Disease

Treatment Centers East US
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Treatment Centers West US
Click on the above link for the most up to date listing of Gaucher Treatment centers. (Document will open in a new window)

Carrier testing is reliable and readily available.

An enzyme replacement therapy is available, which provides the missing enzyme. Much outcome assessment has yet to be completed, but indications are that the symptoms can be entirely reversed in children with Type 1 Gaucher Disease. It would be important to begin treatment before there is significant organ or bone damage. Current data strongly suggest that enzyme replacement therapy is an effective treatment for Type 1 Gaucher Disease in all age groups, with a treatment effect occurring most readily in children, and over a longer period of time in adults. It is not clear whether the neurological symptoms of Gaucher Disease respond to the enzyme replacement therapy, but initial reports have been disappointing.

Standard of Care
The current treatment for Gaucher Disease is Cerezyme, however, due to many variables, method of care for each individual may vary. For information about specific Standards of Care for Gaucher Disease, please feel free to contact Dr. Robin A. Ely at ngf@gaucherdisease.org or 800-428-2437 Ext. 521 or contact any of the NGF Medical board members listed below.

Zavesca - Specific Prescription Parameters

The FDA has stated that "Zavesca® is indicated for the treatment of adult patients with mild to moderate type I Gaucher disease for whom enzyme replacement is not a therapeutic option (e.g. due to constraints such as allergy, hypersensitivity, or poor venous access)."

The NGF believes that Zavesca® should only be recommended by physicians who are expert in the diagnosis, treatment, and management of Gaucher Disease.The National Gaucher Foundation’s Medical Advisory Board is currently discussing more precise clinical recommendations for the use of Zavesca® in the overall management of Gaucher Disease.

Further study is still necessary to evaluate the clinical effectiveness of Zavesca® , the drug’s side effect profile, and its possible use for the treatment of Type 3 Gaucher Disease.

Persons who believe they may be candidates for Zavesca® should consult the physician who is helping to manage the Gaucher Disease, and may consult with the NGF Medical Director, Dr. Robin A. Ely for further consideration.

Human trials have begun with a gene therapy, using technology developed for other diseases, which will give the Gaucher patient the ability to produce the enzyme not produced by the defective gene.

Research is ongoing into various treatments and supplemental therapies for Gaucher Disease.