Orphan diseases: state of the drug discovery art;Seltene Krankheiten: Aktueller Stand der Pharmaforschung

Wiener Medizinische Wochenschrift

Volumn 167, Issue 9-10, 2017, Pages 197-204

  Volmar, Claude Henry ^a   Wahlestedt, Claes ^a   Brothers, Shaun P ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Drug discovery; Gene therapy; Orphan disease; Personalized medicine; Rare disease

Indexed keywords

CHAPERONE;

ARTICLE; CLINICAL TRIAL (TOPIC); DRUG DEVELOPMENT; DRUG REPOSITIONING; DRUG RESEARCH; DRUG SCREENING; FOOD AND DRUG ADMINISTRATION; GENE THERAPY; HUMAN; NONHUMAN; PERSONALIZED MEDICINE; PHENOTYPE; PRECLINICAL STUDY; RARE DISEASE; AUSTRIA; DRUG INDUSTRY; FORECASTING; INTERDISCIPLINARY COMMUNICATION; INTERSECTORAL COLLABORATION; TRENDS; UNIVERSITY HOSPITAL;

ACADEMIC MEDICAL CENTERS; AUSTRIA; DRUG DISCOVERY; DRUG INDUSTRY; FORECASTING; GENETIC THERAPY; INTERDISCIPLINARY COMMUNICATION; INTERSECTORAL COLLABORATION; PHARMACEUTICAL RESEARCH; PRECISION MEDICINE; RARE DISEASES;

EID: 84955608404     PISSN: 00435341     EISSN: 1563258X     Source Type: Journal    
DOI: 10.1007/s10354-015-0423-0     Document Type: Article

References (40)

1. Cuatrecasas P. Drug discovery in jeopardy. J Clin Invest. 2006;116:2837–42.
2. Wästfelt M, Fadeel B, Henter J-I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med. 2006;260:1–10.
3. Haffner ME, Whitley J, Moses M. Two decades of orphan product development. Nat Rev Drug Discov. 2002;1:821–5.
4. Dolgin E. Big pharma moves from “blockbusters” to “niche busters”. Nat Med. 2010;16:837–7.
5. Dunne S, Shannon B, Dunne C, Cullen W. A review of the differences and similarities between generic drugs and their originator counterparts, including economic benefits associated with usage of generic medicines, using Ireland as a case study. BMC Pharmacol Toxicol. 2013;14:1.
6. Haffner ME, Torrent-Farnell J, Maher PD. Does orphan drug legislation really answer the needs of patients? Lancet. 2008;371:2041–4.
7. Search Orphan Drug Designations and Approvals. http://www.accessdata.fda.gov/scripts/opdlisting/oopd/index.cfm. Accessed 13 April 2015.
8. Hershfield MS, Buckley RH, Greenberg ML, Melton AL, Schiff R, Hatem C, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol–modified adenosine deaminase. N Engl J Med. 1987;316:589–96.
9. Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin. Med Genet. 2006;142C:121–6.
10. The Office of Rare Diseases Research (ORDR). http://rarediseases.info.nih.gov/aboutus.aspx. Accessed 9 April 2015.
11. Brewer GJ. Drug development for orphan diseases in the context of personalized medicine. Transl Res 2009;154:314–22.
12. Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004;5:554–65.
13. Platt FM, Boland B, van der Spoel AC. Lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol. 2012;199:723–34.
14. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471–86.
15. Xu K, Coté TR. Database identifies FDA-approved drugs with potential to be repurposed for treatment of orphan diseases. Brief Bioinform. 2011. doi:10.1093/bib/bbr006.
16. Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 2009;1:268–79.
17. Parenti G, Andria G, Valenzano KJ. Pharmacological chaperone therapy: preclinical development, clinical translation, and prospects for the treatment of lysosomal storage disorders. Mol Ther. http://www.nature.com/mt/journal/vaop/ncurrent/full/mt201562a.html. Accessed 26 May 2015.
18. Janovick JA, Brothers SP, Cornea A, Bush E, Goulet MT, Ashton WT, et al. Refolding of misfolded mutant GPCR: post-translational pharmacoperone action in vitro. Mol Cell Endocrinol. 2007;272:77–85.
19. Hanrahan JW, Sampson HM, Thomas DY. Novel pharmacological strategies to treat cystic fibrosis. Trends Pharmacol Sci. 2013;34:119–25.
20. Wang G-N, Reinkensmeier G, Zhang S-W, Zhou J, Zhang L-R, Zhang L-H, et al. Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease. J Med Chem. 2009;52:3146–9.
21. Brothers SP, Janovick JA, Conn PM. Calnexin regulated gonadotropin-releasing hormone receptor plasma membrane expression. J Mol Endocrinol. 2006;37:479–88.
22. Swinney DC, Anthony J. How were new medicines discovered? Nat Rev Drug Discov. 2011;10:507–19.
23. Moffat JG, Rudolph J, Bailey D. Phenotypic screening in cancer drug discovery—past, present and future. Nat Rev Drug Discov. 2014;13:588–602.
24. Marks PA, Breslow R. Dimethyl sulfoxide to vorinostat: development of this histone deacetylase inhibitor as an anticancer drug. Nat Biotechnol. 2007;25:84–90.
25. Ferlini A, Scotton C, Novelli G. Biomarkers in rare diseases. Public Health Genomics. 2013;16:313–21.
26. Carey JC. The importance of case reports in advancing scientific knowledge of rare diseases. In: Paz MP de la, Groft SC, editors. Rare Dis Epidemiol. Springer Netherlands; 2010. pp. 77–86. http://link.springer.com/chapter/10.1007/978-90-481-9485-85. Accessed 26 May 2015.
27. Kesselheim AS, Gagne JJ. Strategies for postmarketing surveillance of drugs for rare diseases. Clin Pharmacol Ther. 2014;95:265–8.
28. US Department of Health and Human Services Food and Drug Administration. Center for drug evaluation and research. Guidance for Industry, Investigators and Reviewers Exploratory IND Studies- UCM078933.pdf. Guid Ind Investig Rev Explor IND Stud. 2006. http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM078933.pdf. Accessed 31 Oct 2015.
29. Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96:20–6.
30. Volmar C-H, Brothers S, Wahlestedt C. Development of personalized small molecule modulator screening strategies: upregulation of alpha-L-iduronidase in Mucopolysaccharidosis Type I (MPSI) patient cells. Neuropsychopharmacology. 2012;38:S79–197 (M96).
31. Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007;117:659–71.
32. Home | Orphan Disease Center | University of Pennsylvania | Perelman School of Medicine. http://www.med.upenn.edu/orphandisease/index.shtml. Accessed 28 May 2015.
33. The Center for Rare and Neglected Diseases at the University of Notre Dame. http://www3.nd.edu/~crnd/about_page.htm. Accessed 28 May 2015.
34. Manton Center for Orphan Disease Research | Research + Innovation | Boston Children’s Hospital. http://www.childrenshospital.org/research-and-innovation/research/centers/manton-center-for-orphan-disease-research. Accessed 28 May 2015.
35. Center For Orphan Drug Research—College of Pharmacy—University of Minnesota. http://www.pharmacy.umn.edu/codr/. Accessed 28 May 2015.
36. The Institute—TIGEM. http://www.tigem.it/the-institute. Accessed 28 May 2015.
37. Center for Therapeutic Innovation | Research at Miller School of Medicine. http://psychiatry.med.miami.edu/research/center-for-therapeutic-innovation. Accessed 28 May 2015.
38. KGI | Center for Rare Disease Therapies. http://www.kgi.edu/faculty-and-research/kgi-centers/center-for-rare-disease-therapies.html. Accessed 28 May 2015.
39. Leukodystrophies Research | Kennedy Krieger Institute. http://www.kennedykrieger.org/patient-care/patient-care-centers/center-for-leukodystrophies/research-program. Accessed 28 May 2015.
40. Coles LD, Cloyd JC. The role of academic institutions in the development of drugs for rare and neglected diseases. Clin Pharmacol Ther. 2012;92:193–202.