Research challenges in central nervous system manifestations of inborn errors of metabolism

P. I. Dickson; A. R. Pariser; S. C. Groft; R. W. Ishihara; D. E. McNeil; D. Tagle; D. J. Griebel; S. G. Kaler; J. W. Mink; E. G. Shapiro; K. J. Bjoraker; L. Krivitzky; J. M. Provenzale; A. Gropman; P. Orchard; G. Raymond; B. H. Cohen; R. D. Steiner; S. F. Goldkind; R. M. Nelson; E. Kakkis; M. C. Patterson

doi:10.1016/j.ymgme.2010.11.164

Research challenges in central nervous system manifestations of inborn errors of metabolism

P. I. Dickson, A. R. Pariser, S. C. Groft, R. W. Ishihara, D. E. McNeil, D. Tagle, D. J. Griebel, S. G. Kaler, J. W. Mink, E. G. Shapiro, K. J. Bjoraker, L. Krivitzky, J. M. Provenzale, A. Gropman, P. Orchard, G. Raymond, B. H. Cohen, R. D. Steiner, S. F. Goldkind, R. M. NelsonE. Kakkis, M. C. Patterson

Neurology

Research output: Contribution to journal › Review article › peer-review

16 Scopus citations

Abstract

The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.

Original language	English (US)
Pages (from-to)	326-338
Number of pages	13
Journal	Molecular genetics and metabolism
Volume	102
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2010.11.164
State	Published - Mar 2011

Keywords

Central nervous system
Inborn errors of metabolism
Orphan drug designation
Rare disease
Translational research

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2010.11.164

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Dickson, P. I., Pariser, A. R., Groft, S. C., Ishihara, R. W., McNeil, D. E., Tagle, D., Griebel, D. J., Kaler, S. G., Mink, J. W., Shapiro, E. G., Bjoraker, K. J., Krivitzky, L., Provenzale, J. M., Gropman, A., Orchard, P., Raymond, G., Cohen, B. H., Steiner, R. D., Goldkind, S. F., ... Patterson, M. C. (2011). Research challenges in central nervous system manifestations of inborn errors of metabolism. Molecular genetics and metabolism, 102(3), 326-338. https://doi.org/10.1016/j.ymgme.2010.11.164

Dickson, PI, Pariser, AR, Groft, SC, Ishihara, RW, McNeil, DE, Tagle, D, Griebel, DJ, Kaler, SG, Mink, JW, Shapiro, EG, Bjoraker, KJ, Krivitzky, L, Provenzale, JM, Gropman, A, Orchard, P, Raymond, G, Cohen, BH, Steiner, RD, Goldkind, SF, Nelson, RM, Kakkis, E & Patterson, MC 2011, 'Research challenges in central nervous system manifestations of inborn errors of metabolism', Molecular genetics and metabolism, vol. 102, no. 3, pp. 326-338. https://doi.org/10.1016/j.ymgme.2010.11.164

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abstract = "The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was designed to address challenges in translating potential therapies for these rare disorders, and to highlight novel therapeutic strategies and innovative approaches to CNS delivery, assessment of effects and directions for the future in the treatment of these diseases. Therapies for the brain in inborn errors represent some of the greatest challenges to translational research due to the special properties of the brain, and of inborn errors themselves. This review covers the proceedings of this workshop as submitted by participants. Scientific, ethical and regulatory issues are discussed, along with ways to measure outcomes and the conduct of clinical trials. Participants included regulatory and funding agencies, clinicians, scientists, industry and advocacy groups.",

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author = "Dickson, {P. I.} and Pariser, {A. R.} and Groft, {S. C.} and Ishihara, {R. W.} and McNeil, {D. E.} and D. Tagle and Griebel, {D. J.} and Kaler, {S. G.} and Mink, {J. W.} and Shapiro, {E. G.} and Bjoraker, {K. J.} and L. Krivitzky and Provenzale, {J. M.} and A. Gropman and P. Orchard and G. Raymond and Cohen, {B. H.} and Steiner, {R. D.} and Goldkind, {S. F.} and Nelson, {R. M.} and E. Kakkis and Patterson, {M. C.}",

note = "Funding Information: L. Krivitzky: Research support from the O'Malley Family and Kettering Fund. ",

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AU - Orchard, P.

AU - Raymond, G.

AU - Cohen, B. H.

AU - Steiner, R. D.

AU - Goldkind, S. F.

AU - Nelson, R. M.

AU - Kakkis, E.

AU - Patterson, M. C.

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Research challenges in central nervous system manifestations of inborn errors of metabolism

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Keywords

ASJC Scopus subject areas

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