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Pharming and Genzyme to Start Study for Pompe’s Disease

Posted on: March 30, 2001

Excerpt from Pharming Press Release—March 30, 2001

LEIDEN, the Netherlands, March 30, 2001 - Pharming Group N.V. announced the start of a Phase II-III clinical trial of an enzyme replacement therapy for Pompe’s disease. The trial, under management of the Genzyme-Pharming Alliance LLC, will be conducted at medical centers in Europe and the United States. In this trial, the safety and efficacy of cell-derived recombinant human alpha-Glucosidase will be investigated in patients with the classical infantile form of Pompe’s disease.

“The initiation of this trial demonstrates the ongoing progress in the development of a therapy for Pompe’s disease and it is an important step towards the market launch of this much-needed product. It is therefore a major event for both the Pompe patient community and the Genzyme-Pharming partnership,” said George J.M. Hersbach, Pharming’s president and chief executive officer. “This trial will build on the results we have seen to date in the treatment of Pompe patients and we expect that it will provide us with the necessary data to submit the first registration dossier next year, which is according to plan.” Genzyme and Pharming continue to have discussions with regulatory authorities regarding a registration dossier based on Phase II-III clinical trial results. Additional data may be required prior to filing a BLA in the USA. Mr. Hersbach adds: “We currently anticipate the first launch of the product for the infantile indication to take place in Europe followed by other geographical areas and other indications.”

Pompe’s disease is a hereditary, lethal disease caused by a lack of activity of the enzyme alpha-Glucosidase, which is necessary for breaking down glycogen and converting it into glucose, an important energy source for the human body. Patients suffering from Pompe’s disease lack the ability to adequately break down glycogen leading to an accumulation of this substance, which results most prevalently in the degradation of skeletal, heart and lung muscle. The disease manifests itself in early or late-onset forms: infants diagnosed with the disease generally die of cardiac failure before reaching 1 year of age. For juvenile Pompe patients, the disease leads to serious motor disabilities, severe respiratory complications and death within two or three decades. An estimated 5,000 - 10,000 people in the Western World are affected by Pompe’s disease.

Since 1998, Genzyme and Pharming have been working in partnership to develop a therapy for Pompe’s disease. Results from extended and ongoing Phase I-II clinical trials at Duke University Medical Center (Durham, NC, USA), Sophia Children’s Hospital (Rotterdam, the Netherlands) and University Hospital Essen (Essen, Germany) with human alpha-Glucosidase suggest that the enzyme may reduce heart size and improve heart and skeletal muscle functions. All nine infants currently under treatment will remain on therapy. They have reached ages varying from 20 to 30 months and are doing well. Results from the Duke-trial were recently published in Genetics and Medicine, whereas the results of the Rotterdam-study were published in The Lancet in July 2000….....

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