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Rare diseases

Genzyme, Maryze, Pompe disease, Netherlands

The 6,000 to 8,000 rare diseases are characterized by a broad diversity of disorders and symptoms.
The patients’ quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

Our Rare Disease business is focused on products for the treatment of rare genetic diseases and other chronic debilitating diseases, including Lysosomal Storage Disorders, or LSDs, a group of metabolic disorders caused by enzyme deficiencies. Our principle rare disease products are enzyme replacement therapies:

Cerezyme® (imiglucerase for injection) is an enzyme replacement therapy that is used to treat Gaucher disease, an inherited, potentially life-threatening LSD. It is estimated that there are approximately 10,000 Gaucher patients worldwide. Cerezyme® is a therapy with a 17-year history of reducing, relieving and reversing many of the symptoms and risks of Type 1 Gaucher disease.
Fabrazyme® (agalsidase beta) is an enzyme replacement therapy that is used to treat Fabry disease, an inherited, progressive and potentially life-threatening LSD. Fabry disease is estimated to affect between 5,000 and 10,000 people worldwide. Fabrazyme® is the first specific treatment for Fabry disease. Fabrazyme® is available in over 30 countries.
Myozyme® / Lumizyme® (alglucosidase alfa) are enzyme replacement therapies used to treat Pompe disease, an inherited, progressive and often fatal LSD. It is estimated that there are approximately 10,000 Pompe patients worldwide. Myozyme® is currently available in 48 markets worldwide.

More information on our rare diseases products: