What is Gaucher Disease?
Gaucher disease is a rare, inherited disorder that affects specific cells and organs in the body. The areas most affected include the spleen, liver, and bones, as well as the central nervous system. A fatty substance known as glucocerebroside, begins to accumulate inside the cells in these areas when a specific enzyme, named glucocerebrosidase, is unable to break down glucocerebroside. In people with Gaucher disease, Glucocerebrosidase is either missing, is produced by the body in only small amounts, or is unable to function properly.
There are approximately 7,000 diagnosed Gaucher patients worldwide. Based on that incidence, the estimated total world population is likely between 10,000 and 15,000 patients.
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Patients
Study Centers
As treatment sites become active and begin to enroll patients for Shire HGT's treatment protocol HGT-GCB-058 (velaglucerase alfa for patients with Type 1 Gaucher disease), information on site locations will be available here.
Common Questions
What is velaglucerase alfa?
Velaglucerase alfa is Shire HGT’s investigational enzyme replacement therapy for type 1 Gaucher disease. The enzyme produced is glucocerebrosidase. It has the exact human amino acid sequence, and carries a human glycosylation pattern.
When will velaglucerase alfa be available to patients?
We announced on August 3, 2009 that FDA has accepted our treatment protocol HGT-GCB-058. This will allow physicians to provide velaglucerase alfa to patients, in accordance with the conditions of the protocol. The drug will initially be offered free of charge under the protocol to facilitate patient access. Please speak with your physician if you are interested in receiving velaglucerase alfa as a treatment.
Why would Shire HGT provide the drug for free?
Shire HGT understands the seriousness of Gaucher disease, and the consequences of treatment interruption, and is committed to meeting the needs of patients at this difficult time. Shire HGT is responding to an acute need for patients requiring enzyme replacement therapy for Gaucher disease.
Where can I get more information about velaglucerase alfa?
Please ask your treating physician if you would like more information. If you would like to receive additional Gaucher disease information as it becomes available, please register here.