Orphan diseases may be one of the last frontiers in drug development. With an estimated 50 million or more people affected across Europe and North America by over 6,000 rare diseases, the unmet medical need is daunting. This research explores the question of whether the opportunities outweigh the challenges and provide incentives for midsized to large pharmaceutical and biotechnology companies to invest in this area.
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NIH Office of Rare Diseases. https://doi.org/rarediseases.info.nih.gov/.
Drummond MF, Wilson DA, Kanavos P, Ubel P, Rovira J. Assessing the economic challenges posed by orphan drugs. Int J Technol Assess Health Care. 2007;23(3):397–401.
Statistics by country for malaria. WrongDiag nosis.com. https://doi.org/www.wrongdiagnosis.com/m/malaria/stats-country.htm.
National Gaucher Foundation. https://doi.org/www.gaucherdisease.org/banner_link.php.
World Health Organization, Human Genetics Programme. The molecular genetic epidemiology of cystic fibrosis. Report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS. Genoa, Italy, June 19, 2002. https://doi.org/whqlibdoc.who.int/hq/2004/WHO_HGN_CF_WG_04.02.pdf.
National Cancer Institute. Where can I find cancer incidence statistics? https://doi.org/surveillance.cancer.gov/statistics/types/incidence.html.
US Food and Drug Administration. Developing products for rare diseases and conditions. https://doi.org/www.fda.gov/ForIndustry/DevelopingProductsforRareDiseasesConditions/HowtoapplyforOrphanProductDesignation/DefinitionofDiseasePrevalence/default.htm.
Haffner M, Torrent-Farnell J, Maher PD. Does orphan drug legislation really answer the needs of patients? Lancet. 2008;371:2041–2044.
Pharm Exec Staff. Pharm Exec top 50: the winners’ circle. Pharm Exec. 2008;(May):74–84.
Charlish P. The Biotech Company league table. Scrip Executive Briefing. 2008;1(8):1–12.
ClinicalTrials.gov. Search results. https://doi.org/www.clinicaltrials.gov/ct2/results?term=rare+open.
PhRMA Report. Orphan drugs in development for rare diseases. Presented by America’s Biopharmaeutical Companies, Genetic Alliance, and National Organization For Rare Diseases. 2007; 1–32. https://doi.org/www.pharma.org.
Advanstar Publication. Resource guides. Top 200 drugs. A 5-year compilation updated with 2007 data.
Topamax site. https://doi.org/www.topamax.com/topamax/index.html.
Lamictal site. https://doi.org/www.lamictal.com/.
Enbrel site. https://doi.org/www.enbrel.com/.
Humira site. https://doi.org/www.humira.com/.
Prograf site. https://doi.org/www.prograf.com/.
Evista site. https://doi.org/www.evista.com/pat/index.jsp.
Gleevec site. https://doi.org/www.gleevec.com/index.jsp.
Copaxone site. https://doi.org/www.copaxone.com/.
Suboxone site. https://doi.org/www.suboxone.com/.
Avonex site. https://doi.org/www.avonex.com/msavProject/avonex.porta1.
Sensipar site. Sensipar tablets. https://doi.org/www.sensipar.com/patient/pdf/sensipar_pi.pdf.
Thalomid site, https://doi.org/www.thalomid.com/.
Temodar site. https://doi.org/www.temodar.com/temodar/application.
Betaseron site. https://doi.org/www.betaseron.com/index.jsp.
Pulmozyme site. https://doi.org/www.pulmozyme.com/.
Neupogen site. https://doi.org/www.neupogen.com/pi.html.
Solvay Pharmaceuticals. Marinol. https://doi.org/www.solvaypharmaceuticals-us.com/products/marinolproductinformation/0,998,12413-2-0,00.htm.
National Organization for Rare Disorders. https://doi.org/www.rarediseases.org/.
Genetic Alliance. https://doi.org/www.geneticalliance.org/.
Partnership for Prescription Assistance. https://doi.org/www.pparx.org/Intro.php.
Samson K. Orphan economics; the downside of supply-side pharmacology. Ann Neurol. 2008; 64(3):A13–A16.
Varmus H. Getting ready for gene-based medicine. N Engl J Med. 2002;347:1526–1527.
Fischer A, Cavazzana-Calvo M. Gene therapy of inherited diseases. Lancet. 2008;371:2044–2047.
Griggs RC, Batshaw M, Dunkle M, et al. For the rare diseases clinical research network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009; 96(1):20–26.
Bach PB. Intersecting roles: CMS and FDA—implications for pharmaceutical and device industries. https://doi.org/www.ehcca.com/presentations/fdasymposiurn2/bach_1.pdf.
O’Reilly J, Dalal A. Off-label or out of bounds? Prescriber and marketer liability for unapproved uses of FDA-approved drugs. Ann Health Law. 2003:12(2):295–324.
Federal Register. August 22, 2008. 73(164): 49603–49610.
Code of Federal Regulations, 21 CFR 314.126.
Federal Trade Commission. FTC sues Ovation Pharmaceuticals for illegally acquiring drug used to treat premature babies with life-threatening heart condition. December 16, 2008. https://doi.org/www.ftc.gov/opa/2008/12/ovation.shtm.
US Food and Drug Administration, MedWatch safety alerts for human medical products. https://doi.org/www.fda.gov/medwatch/SAFETY/2006/Feb_PI/Ceredase_Pl.pdf.
Wechsler J. Congress blasts huge price hikes for orphan drugs. Pharm Exec. 2008(Sept):18.
Lavine G. Orphan Drug Act passes quarter-century milestone in fight against rare diseases. Am J Health Syst Pharm. 2008;65:1205,1210.
Traynor K. FDA program could boost treatments for neglected diseases. Am J Health-Syst Pharm. 2008;65:1595–1596.
Ligand. Collaborations. https://doi.org/www.ligand.com/collaborations.php#collaboration.
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Reinhart, R., Madrzjewski, K. Orphan Drug Development: Opportunities and Challenges from a Midsized to Large Company Perspective. Ther Innov Regul Sci 44, 101–109 (2010). https://doi.org/10.1177/009286151004400201
- Orphan drug
- Rare disease
- Orphan legislation
- Orphan designation