A Transgenic Approach to Enzyme Replacement Therapy in Pompe Patients

Category: IPA Conferences
November 30, 1999

Mr. A. Vos, MSc
Director, Pompe Program Management Team Pharming/Genzyme LLC

Mr. J. Dalle, MSc
Director, Quality Assurance, Pharming NV

Mr. A. Curtis, MBA
Product Manager, Enzyme Replacement Therapy, Genzyme Corp.


Pharming has pioneered the production of recombinant human proteins isolated from the milk of transgenic animals. In the particular case of Pompe´s disease, Pharming has succeeded in producing the enzyme human alpha-glucosidase at high levels in the milk of transgenic rabbits. The production of human alpha-glucosidase currently takes place at Pharming’s small scale pilot plant in Geel, Belgium. The pilot plant is capable of producing alpha-glucosidase for clinical trials. In addition, Pharming is constructing a commercial scale plant for production of the enzyme after product approval. The plant’s completion is expected in the year 2000.


Genzyme has obtained experience with developing enzyme replacement therapy for Gaucher disease. At the moment Genzyme is also involved in the development of several other Lysosomal Storage Diseases, like Fabry disease and Mucopolysaccharidosis I (MPS I). By working closely with physicians and patients Genzyme has brought treatment to over 2500 Gaucher patients all over the world. Rare diseases, like Gaucher and Pompe’s disease, require programmes that raise the awareness in the general medical community about these diseases.


This involves education with regard to diagnosis of the disease, treatment by specialised physicians and proper evaluation of therapy. Furthermore, collaborative action is often needed by patients, physicians and the company to give patients access to reimbursement of treatment. With regard to Pompe’s disease the Pharming/Genzyme joint venture is equally committed to successfully develop the potential enzyme replacement therapy with alpha-glucosidase in a joint effort with physicians, patients and their families.

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