Genzyme Corporation and it’s development partner, Pharming N.V., are committed to providing an effective and practical therapy for Pompe disease that can be made available to the greatest number of patients in the shortest possible time. As part of this commitment, the companies desire to maintain open communications with the patient community. Genzyme and Pharming will work with the IPA and other patient advocacy groups to disseminate accurate information concerning clinical development of this therapy in a timely manner.

During the spring of 2000, Genzyme and Pharming shifted the focus of their development work away from drug purified from the milk of transgenic rabbits to drug produced in cultured Chinese hamster ovary (CHO) cells. This decision was not based upon safety or efficacy concerns with either product. Results obtained so far suggest that the transgenic and CHO-derived drugs show comparable clinical effects, however there have not yet been enough patients treated with either product for a regulatory agency to evaluate its safety and effectiveness for approval.

The switch to developing the CHO-derived product was based on manufacturing considerations. Genzyme and Pharming believe that the CHO-derived product can be scaled to commercial production levels, qualified for use, and made accessible to patients considerably faster than the transgenic product.

That said, why have Genzyme and Pharming stated that there is only limited drug availability at present? There are three answers to this question. First, it was not known until patients were initially treated that a larger amount of drug than anticipated would be required. As a result of the higher than expected material requirement, it was necessary to secure additional resources to produce larger amounts of enzyme. Second, there is a limited worldwide supply of the equipment necessary to produce these large amounts of enzyme. Finally, the task of preparing large quantities of a purified enzyme is complex and time consuming. At each step it is necessary to ensure that the product is comparable in terms of its identity, performance, and shelf life. Genzyme and Pharming are working diligently to develop large scale manufacturing capabilities to provide an adequate supply of the medication.

Genzyme and Pharming plan to initiate a clinical trial by the end of 2000 in a limited number of patients with infantile onset Pompe disease, pending the outcome of ongoing discussions with the US Food and Drug Administration and the successful production of the drug for the clinical trial. The trial is expected to involve centers in both the US and Europe. Following enrollment of the patients with infantile onset disease, Genzyme and Pharming are planning to expand patient enrollment to involve a larger number of patients in order to supplement the initial data and support the use of the product in older patients. Further details of the trial, including the enrollment criteria and the clinical centers where it will be conducted will be made publicly available once the details have been finalized.

We remain committed to making new therapies available to Pompe patients as rapidly as possible, and look forward to working with patient associations to keep you up to date on our progress.

Paul L. Kaplan, Ph.D., M.B.A.
Senior Director of Program Management
Genzyme (