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.
authors.affiliation: Department of Pediatrics, LA Biomedical Research Institute at Harbor-UCLA, 1124 W. Carson St, HH1, Torrance, CA 90502, USA. Pdickson@ucla.edu
authors.forename: P I
authors.initials: PI
authors.lastname: Dickson
authors.forename: A R
authors.initials: AR
authors.lastname: Pariser
authors.forename: S C
authors.initials: SC
authors.lastname: Groft
authors.forename: R W
authors.initials: RW
authors.lastname: Ishihara
authors.forename: D E
authors.initials: DE
authors.lastname: McNeil
authors.forename: D
authors.initials: D
authors.lastname: Tagle
authors.forename: D J
authors.initials: DJ
authors.lastname: Griebel
authors.forename: S G
authors.initials: SG
authors.lastname: Kaler
authors.forename: J W
authors.initials: JW
authors.lastname: Mink
authors.forename: E G
authors.initials: EG
authors.lastname: Shapiro
authors.forename: K J
authors.initials: KJ
authors.lastname: Bjoraker
authors.forename: L
authors.initials: L
authors.lastname: Krivitzky
authors.forename: J M
authors.initials: JM
authors.lastname: Provenzale
authors.forename: A
authors.initials: A
authors.lastname: Gropman
authors.forename: P
authors.initials: P
authors.lastname: Orchard
authors.forename: G
authors.initials: G
authors.lastname: Raymond
authors.forename: B H
authors.initials: BH
authors.lastname: Cohen
authors.forename: R D
authors.initials: RD
authors.lastname: Steiner
authors.forename: S F
authors.initials: SF
authors.lastname: Goldkind
authors.forename: R M
authors.initials: RM
authors.lastname: Nelson
authors.forename: E
authors.initials: E
authors.lastname: Kakkis
authors.forename: M C
authors.initials: MC
authors.lastname: Patterson
mesh_terms: D000818:Animals; D035843:Biomedical Research / Q000941:ethics / Q000639:trends; D002490:Central Nervous System / Q000473:pathology; D002986:Clinical Trials as Topic / Q000941:ethics; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D035583:Rare Diseases / Q000628:therapy