Genzyme General (1 Kendall Square, Cambridge, MA 02139-1562; Tel: 617/252-7500) and Pharming Group N.V. (Leiden, Netherlands) are forming a joint venture to develop and commercialize the enzyme human alpha-glucosidase as a treatment for Pompe's disease.
This condition is a fatal type of lysosomal storage disorder, caused by a complete or partial deficiency of alpha-glucosidase. The disease results in a build-up of glycogen in various muscles and organs of the body, leading to fatal muscle degeneration. Pharming believes that administration of human alpha-glucosidase to patients suffering from Pompe's disease could alleviate or eliminate symptoms.
Human alpha-glucosidase, which is secreted in the milk of transgenic rabbits, is Pharming's lead product. In June 1998, Pharming announced preliminary results from a completed Phase I clinical trial with human alpha-glucosidase. The trial was designed to determine the safety, tolerability, and pharmacokinetics of the compound in healthy volunteers.
Based on the results obtained in the phase I trial and in pre-clinical studies, Pharming expects to commence Phase II/III clinical trials later in 1998. Pharming was granted orphan drug designation for human alpha-glucosidase by the FDA in September 1996, potentially giving the product market exclusivity in the United States for seven years following FDA approval.
Pompe's disease is one of a family of 40 rare diseases known generally as lysosomal storage disorders. Pompe's disease, also known as acid maltase deficiency or glycogen storage disorder type II, affects an estimated 5,000-10,000 people in the western world. Clinical forms of Pompe's disease vary according to the age of onset and progression of symptoms.
The infantile form appears in the first few months after birth and is characterized by a rapid build-up of glycogen in several tissues, severe muscle weakness, and enlargement of the heart and liver. Respiratory and heart complications often lead to death before the age of two.
The juvenile form usually begins in early childhood and develops more slowly. It is characterized by progressive muscle weakness, with the respiratory muscles being most critically affected. Patients with this form of the disease usually succumb to respiratory failure before the third decade of life.
In the adult form of the disease, symptoms begin to appear between the second and sixth decades of life. Glycogen build-up occurs mainly in skeletal muscle, leading to muscular weakness, particularly in the diaphragm, limb girdle, and the trunk. Respiratory complications are the main cause of death.
Besides contributing to the joint venture, Genzyme will make an equity investment in Pharming of $14 million.
Genzyme appears to have broad commitment to enzyme deficiency diseases. It already markets "Ceredase" and Cerezyme" versions of glucocerebrosidase, worth $333 million in sales in 1997. The company recently announced that it planned to work with BioMarin Pharmaceutical (11 Pimental Court, Novato, CA 94949; Tel: 415/382- 6653) to develop alpha-L-iduronidase as a treatment for Hurler's syndrome, another lysosomal storage disorder. In addition, it is conducting a Phase I/II clinical trial of alpha-galactosidase as a treatment for Fabry's disease. Genzyme also is investigating gene- therapy approaches to treating lysosomal storage disorders.
Pharming specializes in the development, production, and commercialization of human therapeutic proteins, produced at high levels in the milk of transgenic animals that have been created using the company's proprietary technology.
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