For it has been found in almost all things that what they contain of useful or applicable, is hardly perceived unless we are deprived of them, or they become deranged in some way (Īs discussed in other reports in this PC JID edition, the ideal solution for a permanent cure for PC would be a gene therapy replacement procedure in which the defective PC gene would be replaced with a corrected version that would be regulated in identical fashion to the wild-type gene. William Harvey, the English physician and discoverer of blood circulation, stated in a letter dated 1657, “Nature is no where accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by careful investigation of cases of rarer forms of disease. The study of rare diseases has often yielded great amounts of information, completely out of proportion with the number of patients suffering from the disorder. Basic research is funded with the expectation that investigation in one area will have benefits in many related as well as unrelated and unexpected areas. Furthermore, science is replete with examples of esoteric research that has led to unintended discoveries that benefit society at large. Why treat rare diseases, particularly diseases in which very small numbers of patients are involved? There are several answers to this question, not the least of which is that these are real people with families and employers that are also affected by the loss of quality of life and productivity. Societal Benefits of Rare Disease Research Many current blockbuster drugs (sales over $1 billion per year), including Amgen's Epogen and Neupogen, were originally introduced as orphan drug products and were later extended to larger markets. Other companies including Transkaryotic Therapies (Cambridge, MA), Oxford GlycoSciences (Brussels, Belgium), and Orphan Medical (Minnetonka, MN) have also taken a similar approach to seek niche markets for specific rare diseases, taking advantage of the Orphan Drug Act. Much of the remainder of Genzyme's sales comes from other therapeutics with current orphan drug status including Fabrazyme (for Fabry disease), Aldurazyme (for Mucopolysaccharidosis I), and Thyrogen (for thyroid cancer). Although the 7 y marketing exclusivity of Cerezyme has long since ended, the drug remains entrenched in the marketplace and highly profitable. Gaucher disease affects less than 10,000 people worldwide and about 40% are treated with Cerezyme. This is an enzyme replacement therapy for Gaucher disease, a potentially deadly genetic disorder that causes anemia and enlarged organs ( ).
Approximately half of Genzyme's 2003 revenue came from $740 million in sales of Cerezyme (Genzyme, Cambridge, MA). Several companies have profitably targeted this niche market. The National Center For Study of Orphan Disease (CSOD, ) bridges various organizations to facilitate rare disease therapeutic development.Ī number of biotechnology companies have taken advantage of the Orphan Drug Act financial incentives to specifically develop and market therapeutics for the rare disease market. Similarly, the Office of Orphan Products Development (OOPD, ) at the US Food and Drug Administration (FDA) and Public Health Programme (formerly The EU Programme on Rare Diseases, ) facilitate orphan drug development through guidance and financial assistance (see Figure 2). The European Rare Disease Therapeutic Initiative (ERDITI, ) is a coalition of patient organizations fostering interactions between academic institutions working on rare diseases and the pharmaceutical industry to bring new therapeutics to the marketplace. OrphaNet provides information on rare diseases ( ). The International Rare Disease Support Network (IRDSN) offers support groups for over 1200 diseases ( ). The National Organization of Rare Diseases (NORD) is a federation of approximately 125 voluntary health organizations and over 60,000 patients ( ). Other organizations have been formed to facilitate information flow and research and development of rare disease therapeutics.
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