National Gaucher Foundation - Gaucher Disease
Slideshow Image 1
Slideshow Image 2
Slideshow Image 3


All of us at Genzyme want to express our continued commitment to you, the Gaucher community. We have been committed to research and development for treatment of Gaucher disease for over 20 years. We are determined to continue to serve the Gaucher community in every way we can, which includes:

Genzyme Care Coordination
For 20 years Genzyme case managers have provided free and confidential care coordination, support, and services to individuals living with Gaucher disease and their families. Genzyme Case Managers provide one-one, personalized support and information about treatment and related insurance coverage.

To speak with a Genzyme Case Manager in your area, please call
1-800-745-4447, Option 3, Monday - Friday 8:00am - 6:00pm EST. When you call, you will be connected to a personal Genzyme Case Manager who can help answer your questions and will work directly with you, your insurance company and your health care providers.

Medical Affairs Liaisons
Medical Affairs Liaisons are regional, field based staff with training in genetic counseling or nursing who provide education and support to patients, families, health care professionals and the general community.

The Gaucher Registry
The Gaucher Registry is now in its 18th year and was established to better understand the natural history and progression of Gaucher disease. Today, the Registry includes more than 5,000 Gaucher patients. Data from the Registry are published in medical journals and presented at international conferences. The Genzyme-supported Gaucher Registry is the most robust, open-access source for ongoing data collection and expanded understanding of the disease.

Genzyme Medical Information
Genzyme Medical Information is available to provide answers to questions from health care professionals and patients about Genzyme products and related diseases. Please call 1-800-745-4447, option 2, hours: 8:00-6:00 (EST)

Genzyme Clinical Trials-eliglustat tartrate (formerly Genzyme 112638)

Genzyme is also developing an investigational oral compound as an alternative for adult patients with Gaucher disease type 1. The first clinical study of eliglustat tartrate (a phase II clinical study) has completed its primary analysis of 52 weeks.
Genzyme has started two international phase 3 clinical studies:

1) The ENGAGE study will assign 36 patients to receive either eliglustat tartrate or a placebo for 9 months; patients may then choose to continue treatment with eliglustat tartrate in the extension study until it is approved by the FDA. This study is open to adult Gaucher disease 1 patients who have not received enzyme replacement in the past 12 months or oral Gaucher treatments in the past 6 months.

2) The ENCORE study will assign 186 patients to receive either eliglustat tartrate or Cerezyme® treatment for 1 year; patients may then choose to continue treatment with eliglustat tartrate in the extension study until it is approved by the FDA. The ENCORE study is open to adult GD1 patients who have been treated with Cerezyme® for at least 3 years and have not had a dose reduction or treatment interruption lasting more than 6 consecutive months.

For more information on these clinical trials of eliglustat tartrate including a list of US sites, please go to, contact the study coordinator listed, talk to your own physician, or call Genzyme Medical Information at 1-800-745-4447, option 2.


Who We Are
One of the world's leading biotechnology companies, Genzyme is dedicated to making a major positive impact on the lives of people with serious diseases. Since 1981, the company has grown from a small start-up to a diversified enterprise with more than 11,000 employees in locations spanning the globe and 2008 revenues of $4.6 billion. In 2007, Genzyme was chosen to receive the National Medal of Technology, the highest honor awarded by the President of the United States for technological innovation.

With many established products and services helping patients in nearly 100 countries, Genzyme is a leader in the effort to develop and apply the most advanced technologies in the life sciences. The company's products and services are focused on rare inherited disorders, kidney disease, orthopedics, cancer, transplant and immune disease, and diagnostic testing. Genzyme's commitment to innovation continues today with a substantial development program focused on these fields, as well as cardiovascular disease, neurodegenerative diseases, and other areas of unmet medical need.

Contact information:
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
T: 617 252 7500
F: 617 252 7600

Gaucher Websites:
Gaucher disease affects fewer than 10,000 people worldwide. This web site has been created for people living with Gaucher, their friends and families, and health care professionals.
If you are a patient residing in the United States and would like to speak with a Case Manager in your area, call Genzyme Care Coordination 8am until 6pm EST, Monday through Friday 1-800-745-4447 (option 3) (toll free) or 1-617-768-9000 (option 3).

If you are a physician in the United States and have a question, call Genzyme Medical Information 8am until 6pm EST, Monday through Friday 1-800-745-4447, (option 2) (toll free) or 1-617-768-9000, (option 2).