Review ArticleDrug development for orphan diseases in the context of personalized medicine
Section snippets
National Organization for Rare Diseases (NORD)
In 1982, Dr. Jesse Thoene and I organized the first orphan disease conference, in Ann Arbor, to bring together scientists interested in orphan drugs with drug company representatives, representatives of lay organizations involved with orphan diseases, and various types of administrators and political representatives. The results of this meeting were published.2 Two subcommittees of this meeting recommended formation of an umbrella organization concerned with all orphan diseases.2 From this
Review of Progress in Developing Orphan Drugs
Given the above positive developments, what progress are we making on developing orphan drugs? Certainly, more attention is being paid as witnessed in the increase in publications on orphan diseases and orphan drugs during current times as compared with when the above reviewed activities were beginning (Table I). What about actual orphan drug FDA approvals? It has been stated that only 10 orphan drug approvals occurred in the decade prior to the passage of the Orphan Drug Act (1983) and more
Zinc for Maintenance Therapy of Wilson's Disease
Wilson's disease is an inherited disease of copper accumulation and copper toxicity.6, 7, 8, 9 It is rare—there are about 10,000 patients in the United States. The copper toxicity causes liver damage and in about half the patients brain damage, with patients who present with liver disease or a movement type neurologic disorder, most typically during the 2nd and 3rd decades of life.
I was giving patients with sickle cell anemia relatively high doses of zinc to try to treat their disease.10 We had
The Future of Orphan Drug Development in the Context of Personalized Medicine
As I have said earlier, orphan disease treatment is almost synonymous with personalized medicine. It is different and more personalized than treating large populations, where the doctor's favorite statin will control cholesterol, or favorite sleeping aid will control insomnia, or favorite antihypertensive will control blood pressure, in just about everybody. Treating an orphan disease is a very personalized experience, because the physician observes so few of these patients, and even within the
Final Thoughts and Recommendations
As I have said repeatedly, research on orphan drugs is vitally important. Currently, 20–30 million people are waiting to be helped. Yet it is very personalized, because in the end a physician must be able to select and prescribe the treatment that is effective and safe for a single patient, even though that may be the only patient with that particular disease the physician sees that year.
Many good things have happened to facilitate orphan disease treatment research, which include NORD, the
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(1981) - NIH Office of Rare Diseases (ORD). About us. Available at: http://rarediseases.info.nih.gov/aboutus.aspx. Accessed...
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- National Organization for Rare Disorders. About NORD. Available at: http://www.rarediseases.org/info/about.html....
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