Current clinical trial approaches in rare disease test one drug on one indication defined by a clinical phenotype. For targeted drugs, grouping patients by molecular etiology would make much more sense.
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References
Mort, M., Ivanov, D., Cooper, D.N. & Chuzhanova, N.A. Hum. Mutat. 29, 1037–1047 (2008).
Peltz, S.W., Morsy, M., Welch, E.M. & Jacobson, A. Annu. Rev. Med. 64, 407–425 (2013).
Auld, D.S., Thorne, N., Maguire, W.F. & Inglese, J. Proc. Natl. Acad. Sci. USA 106, 3585–3590 (2009).
McElroy, S.P. et al. PLoS Biol. 11, e1001593 (2013).
Wilschanski, M. et al. Eur. Respir. J. 38, 59–69 (2011).
Kuschal, C., Digiovanna, J.J., Khan, S.G., Gatti, R.A. & Kraemer, K.H. Proc. Natl. Acad. Sci. USA 110, 19483–19488 (2013).
Du, L. et al. J. Exp. Med. 206, 2285–2297 (2009).
Nudelman, I. et al. J. Med. Chem. 52, 2836–2845 (2009).
Dietz, H.C. N. Engl. J. Med. 363, 852–863 (2010).
Linde, L. & Kerem, B. Trends Genet. 24, 552–563 (2008).
Keeling, K.M. & Bedwell, D.M. Wiley Interdiscip. Rev. RNA 2, 837–852 (2011).
Kuzmiak, H.A. & Maquat, L.E. Trends Mol. Med. 12, 306–316 (2006).
Keeling, K.M. et al. PLoS ONE 8, e60478 (2013).
Lindquist, S.L. & Kelly, J.W. Cold Spring Harb. Perspect. Biol. 3, a004507 (2011).
Amaral, M.D. & Farinha, C.M. Curr. Pharm. Des. 19, 3497–3508 (2013).
Parenti, G. EMBO Mol. Med. 1, 268–279 (2009).
Bemporad, F. & Chiti, F. Chem. Biol. 19, 315–327 (2012).
Balch, W.E., Morimoto, R.I., Dillin, A. & Kelly, J.W. Science 319, 916–919 (2008).
Wang, F., Song, W., Brancati, G. & Segatori, L. J. Biol. Chem. 286, 43454–43464 (2011).
Yang, C. et al. Proc. Natl. Acad. Sci. USA 111, 249–254 (2014).
Mu, T.W., Fowler, D.M. & Kelly, J.W. PLoS Biol. 6, e26 (2008).
Garber, K. Nat. Biotechnol. 31, 189 (2013).
Quintana-Gallego, E., Delgado-Pecellín, I. & Calero Acuña, C. Arch. Bronconeumol. 50, 146–150 (2014).
Myerowitz, R. Hum. Mutat. 9, 195–208 (1997).
Hruska, K.S., LaMarca, M.E., Scott, C.R. & Sidransky, E. Hum. Mutat. 29, 567–583 (2008).
Mossé, Y.P. et al. Lancet Oncol. 14, 472–480 (2013).
Pichavant, C. et al. Mol. Ther. 19, 830–840 (2011).
Hoffman, E.P. & Connor, E.M. Discov. Med. 16, 233–239 (2013).
Nakamura, K., Hattori, K. & Endo, F. Am. J. Med. Genet. C. Semin. Med. Genet. 157, 63–71 (2011).
Kulkarni, A. & Wilson, D.M. III. Am. J. Hum. Genet. 82, 539–566 (2008).
Xu, M. et al. J. Biol. Chem. 287, 39349–39360 (2012).
Anderson, S.L. & Rubin, B.Y. Biochem. Biophys. Res. Commun. 336, 150–156 (2005).
Axelrod, F.B. et al. Pediatr. Res. 70, 480–483 (2011).
Hims, M.M. et al. J. Mol. Med. (Berl.) 85, 149–161 (2007).
Wang, G.S. & Cooper, T.A. Nat. Rev. Genet. 8, 749–761 (2007).
Boone, N. et al. Hum. Mutat. 33, 530–540 (2012).
Rymond, B. Nat. Chem. Biol. 3, 533–535 (2007).
Kazantsev, A.G. & Thompson, L.M. Nat. Rev. Drug Discov. 7, 854–868 (2008).
Medina, M., Garrido, J.J. & Wandosell, F.G. Front. Mol. Neurosci. 4, 24 (2011).
Cullen, V. et al. Ann. Neurol. 69, 940–953 (2011).
Appelqvist, H., Wäster, P., Kågedal, K. & Öllingerm, K. J. Mol. Cell Biol. 5, 214–226 (2013).
Kleta, R. & Gahl, W.A. Expert Opin. Pharmacother. 5, 2255–2262 (2004).
Tuchman, M. et al. Pediatr. Res. 64, 213–217 (2008).
Huang, R. et al. Sci. Transl. Med. 3, 80ps16 (2011).
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P.J.B. is also a Program Director in the Division of Metabolism and Health Effects, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland, USA.
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Brooks, P., Tagle, D. & Groft, S. Expanding rare disease drug trials based on shared molecular etiology. Nat Biotechnol 32, 515–518 (2014). https://doi.org/10.1038/nbt.2924
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DOI: https://doi.org/10.1038/nbt.2924
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