Translation of the Genomic Medicine into Clinical Reality: Challenges of Pompe Disease

Genomic medicine, the practice of medicine using knowledge gained from the gene discovery, has the ability to enhance diagnostic skills, therapeutic options, and ultimately the overall quality of health care. Recently, the genetic etiologies of numerous single-gene disorders have been delineated. In turn, this information has increased the clinician’s ability to direct the diagnosis and treatment of some classical mendelian genetic disorders. The development of an effective therapy based on the new genetic technologies, in a devastating, fatal single-gene mendelian disorder, Pompe disease, will be presented to illustrate the potential of the genomic medicine. Pompe disease, also known as glycogen storage disease type II, is a fatal genetic muscle disorder for which no treatment currently exists. In its most severe form, infants with Pompe disease ultimately die from cardiac-respiratory failure before one year of age. Our laboratory directed the development of recombinant human acid α-glucosidase-the enzyme that Pompe patients lack-produced in laboratory via the genetic engineering of Chinese hamster ovary cell cultures. In the pre-clinical study sponsored by Synpac pharmaceuticals, we showed that this recombinant enzyme helped relieve symptoms of Pompe disease in animals, and wer were then able to receive approval from United States Food and Drug Administration to test this enzyme in babies with GSD I I in a phase I/I I clinical trial. Remarkable clinical improvements in that trial were noted, and via partnership with Genzyme, a biotech company, a phase II/III trial in now ongoing. Some Challenges in the development of this novel therapy will be discussed.

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