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.
Request Updates
Get updates by email:
Physicians
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.
Dear Physician:
In an effort to maintain open and transparent communication, I am writing to you to highlight the fact that Shire is committed to doing everything possible to assist Gaucher patients and their physicians during the imiglucerase supply shortage. Shire is pleased to be able to provide velaglucerase alfa well over a year ahead of previously anticipated commercialization world wide. In the US, the velaglucerase alfa treatment protocol HGT-GCB-058, is currently open and enrolling patients. In the EU and other regions, Shire is actively engaging with local and regional authorities to allow pre-approval access using the fastest mechanisms available in each region.
Shire has therefore, accelerated its manufacturing timeline by almost 18 months in order to provide velaglucerase alfa for the long-term treatment of Gaucher patients during 2009 and beyond, and we will manage on an ongoing basis the overall global supply of velaglucerase alfa based on the evolving need as communicated to us by health care providers. Shire currently has supply of velaglucerase alfa for several hundred patients world-wide. The total number of patients Shire can treat is dependent on the patient weight as well as the administered dose as recommended by their treating physician; Shire estimates this could translate into a range of 300 to 600 patients for uninterrupted treatment starting in September 2009. Shire also expects that several hundred more patients can be added throughout 2010; the range will again depend on patient weight and doses.
Shire is currently working with a group of experienced Gaucher physicians to ensure that they put in place guidelines that consider patients in the greatest need of treatment during the global supply crisis. Individual treatment decisions will remain with the patient's physician.
As you know, the process of enrolling the first patient into the treatment protocol will take a certain amount of time due to obligatory steps that must be completed for access to a product prior to its approval by the FDA. This timeline is variable depending upon the requirements of each institution. Once an institution has been registered as a site in the study, enrolling subsequent patients should be much faster. Please keep this initial time requirement in mind when determining whether the velaglucerase alfa treatment protocol may be an appropriate consideration for any of your patients.
If you are interested in more information about the protocol, please contact Shire HGT's OnePathsm services at 1-866-888-0660.
Sincerely,
Ferdinand E. Massari, MD
Global Head and Vice President
Clinical and Medical Affairs
Shire Human Genetic Therapies (HGT)
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.
To date, velaglucerase alfa has completed one Phase I/II study and three Phase III studies in more than 100 patients at 24 sites in 10 countries. Extension trials for the clinical studies are ongoing.
Common Questions
If my practice wants to become a treatment site for velaglucerase alfa, what should I do?
Please contact OnePathSM services at 1-866-888-0660. To sign up for more information, please register here.
When will velaglucerase alfa be available to patients?
We announced on August 3, 2009 that the 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.
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 obtain educational information about Gaucher disease?
Please sign up here for educational information on Gaucher disease.