title: A brief review of recent Charcot-Marie-Tooth research and priorities.
abstract: This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.
authors.affiliation: Hereditary Neuropathy Foundation, New York, NY, 10016, USA ; Collaborations in Chemistry, Fuquay Varina, NC, 27526, USA ; Collaborative Drug Discovery, Burlingame, CA, 94010, USA.
authors.forename: Sean
authors.initials: S
authors.lastname: Ekins
authors.affiliation: Collaborative Drug Discovery, Burlingame, CA, 94010, USA.
authors.forename: Nadia K
authors.initials: NK
authors.lastname: Litterman
authors.affiliation: Arnold Consultancy & Technology LLC, New York, NY, 10023, USA ; Master of Public Health Program, Mount Sinai School of Medicine, New York, NY, 10029, USA ; Quorum Consulting, Inc, San Francisco, CA, 94104, USA.
authors.forename: Renée J G
authors.initials: RJ
authors.lastname: Arnold
authors.affiliation: The Jackson Laboratory in Bar Harbor, Bar Harbour, ME, 04609, USA.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Burgess
authors.affiliation: Department of Medicine, Center for Emerging and Reemerging Pathogens, Rutgers University - New Jersey Medical School, Newark, NJ, 07103, USA.
authors.forename: Joel S
authors.initials: JS
authors.lastname: Freundlich
authors.affiliation: Gene Therapy Center and Dept. of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599-7352, USA.
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Gray
authors.affiliation: Quest Diagnostics, Athena Brand, Marlborough, MA, 01572, USA.
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Higgins
authors.affiliation: Burke-Cornell Medical Research Institute, White Plains, NY, 10605, USA ; Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY, 10065, USA.
authors.forename: Brett
authors.initials: B
authors.lastname: Langley
authors.affiliation: Burke-Cornell Medical Research Institute, White Plains, NY, 10605, USA.
authors.forename: Dianna E
authors.initials: DE
authors.lastname: Willis
authors.affiliation: Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, FL, 32611, USA.
authors.forename: Lucia
authors.initials: L
authors.lastname: Notterpek
authors.affiliation: Institute for Pediatric Regenerative Medicine, University of California Davis, School of Medicine, Sacramento, CA, 95817, USA ; Department of Neurology, University of California, Davis, School of Medicine, c/o Shriners Hospital, Sacramento, CA, 95817, USA.
authors.forename: David
authors.initials: D
authors.lastname: Pleasure
authors.affiliation: Department of Neurogenetics, Max Planck Institute (MPI) of Experimental Medicine, Göttingen, 37075, Germany ; Department of Clinical Neurophysiology, University Medical Center (UMG), Göttingen, D-37075, Germany.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Sereda
authors.affiliation: Hereditary Neuropathy Foundation, New York, NY, 10016, USA.
authors.forename: Allison
authors.initials: A
authors.lastname: Moore
keywords: CMT1A; Charcot Marie Tooth; biomarkers; drug discovery; rare disease