@article{c05a7f74d2aa43f5a5f18a87fd899f68,
title = "Research challenges in central nervous system manifestations of inborn errors of metabolism",
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.",
keywords = "Central nervous system, Inborn errors of metabolism, Orphan drug designation, Rare disease, Translational research",
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. Funding Information: The Research Challenges in CNS Manifestations of Inborn Errors of Metabolism workshop was funded by the NIH Office Rare Diseases Research , National Institute of Neurological Disorders and Stroke , and the FDA Center for Drug Evaluation and Research, Division of Gastroenterology Products . Research presented was funded by: National Institute of Child Health and Development Intramural Research Program (SGK), Batten Disease Support and Research Association (JWM, R01NS060022 ), the Lysosomal Disease Network U54 (EGS, NS065768-01 ), the Urea Cycle Disorders Consortium NIH U54 ( RR019453 ), the National Institute of Neurological Disorders and Stroke (PID, NS054242 ), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (GR, HD057136 ), the Food and Drug Administration (PID, FD003450 ), Genzyme Corporation , and Stem Cells Inc . ",
year = "2011",
month = mar,
doi = "10.1016/j.ymgme.2010.11.164",
language = "English (US)",
volume = "102",
pages = "326--338",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",
}