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Drug Evaluations

Development of mavoglurant and its potential for the treatment of fragile X syndrome

, MD PhD, , MD PhD, , MD, , MD, , MD MS, , MD PhD, & , MD show all

Bibliography

  • Glass IA. X linked mental retardation. J Med Genet 1991;28:361-71
  • Brown WT, Jenkins EC, Cohen IL, et al. Fragile X and autism: a multicenter survey. Am J Med Genet 1986;23:341-52
  • Estecio M, Fett-Conte AC, Varella-Garcia M, et al. Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders. J Autism Dev Disord 2002;32:35-41
  • Li SY, Chen YC, Lai TJ, et al. Molecular and cytogenetic analyses of autism in Taiwan. Hum Genet 1993;92:441-5
  • Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder. BMC Med Genet 2005;6:3
  • Sutcliffe JS, Nelson DL, Zhang F, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992;1:397-400
  • De Boulle K, Verkerk AJ, Reyniers E, et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993;3:31-5
  • Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007;6:45-55
  • Bagni C, Tassone F, Neri G, Hagerman R. Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest 2012;122:4314-22
  • Darnell JC, Van Driesche SJ, Zhang C, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 2011;146:247-61
  • Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010;19:R83-9
  • Chonchaiya W, Au J, Schneider A, et al. Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder. Hum Genet 2012;131:581-9
  • Sullivan SD, Welt C, Sherman S. FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med 2011;29:299-307
  • Hagerman RJ, Berry-Kravis E, Kaufmann WE, et al. Advances in the treatment of fragile X syndrome. Pediatrics 2009;123:378-90
  • Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet 2008;16:666-72
  • Berry-Kravis E, Potanos K. Psychopharmacology in fragile X syndrome - present and future. Ment Retard Dev Disabil Res Rev 2004;10:42-8
  • de Vries BB, Wiegers AM, Smits AP, et al. Mental status of females with an FMR1 gene full mutation. Am J Hum Genet 1996;58:1025-32
  • Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics 2010;7:264-74
  • Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord 2011;3:57-67
  • Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics 2009;124:527-33
  • Shigemoto R, Nakanishi S, Mizuno N. Distribution of the mRNA for a metabotropic glutamate receptor (mGluR1) in the central nervous system: an in situ hybridization study in adult and developing rat. J Comp Neurol 1992;322:121-35
  • Steckler T, Lavreysen H, Oliveira AM, et al. Effects of mGlu1 receptor blockade on anxiety-related behaviour in the rat lick suppression test. Psychopharmacology (Berl) 2005;179:198-206
  • Spooren W, Gasparini F. mGlu5 receptor antagonists: a novel class of anxiolytics? Drug News Perspect 2004;17:251-7
  • Swanson CJ, Bures M, Johnson MP, et al. Metabotropic glutamate receptors as novel targets for anxiety and stress disorders. Nat Rev Drug Discov 2005;4:131-44
  • Weiler IJ, Irwin SA, Klintsova AY, et al. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 1997;94:5395-400
  • Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci 2004;27:370-7
  • Dolen G, Bear MF. Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. J Physiol 2008;586:1503-8
  • Dolen G, Carpenter RL, Ocain TD, Bear MF. Mechanism-based approaches to treating fragile X. Pharmacol Ther 2010;127:78-93
  • Niswender CM, Conn PJ. Metabotropic glutamate receptors: physiology, pharmacology, and disease. Annu Rev Pharmacol Toxicol 2010;50:295-322
  • Luscher C, Huber KM. Group 1 mGluR-dependent synaptic long-term depression: mechanisms and implications for circuitry and disease. Neuron 2010;65:445-59
  • Gasparini F, Ofner S, Flor P, et al. Identification and preclinical characterization of AFQ056 a selective, non-competitive mGlu5 receptor antagonist in clinical development for Fragile X syndrome and L-dopa induced dyskinesia in PD [abstract]. 2011. Available from: http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=d1d668ca-b026-4cd1-9b0f-10674a8332b5&cKey=f275cd87-e153-41cd-95b0-9f8ecce96d67&mKey=%7b8334BE29-8911-4991-8C31-32B32DD5E6C8%7d [Last accessed 18 April 2013]
  • Bakker CE, Verheij C, Willemsen R, et al. Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. Cell 1994;78:23-33
  • Bakker CE, Oostra BA. Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res 2003;100:111-23
  • Irwin SA, Idupulapati M, Gilbert ME, et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet 2002;111:140-6
  • Yan QJ, Rammal M, Tranfaglia M, Bauchwitz RP. Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology 2005;49:1053-66
  • de Vrij FM, Levenga J, van der Linde HC, et al. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis 2008;31:127-32
  • Levenga J, Hayashi S, de Vrij FM, et al. AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis 2011;42:311-17
  • Gantois I, Pop AS, de Esch CE, et al. Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice. Behav Brain Res 2013;239:72-9
  • Pop AS, Levenga J, de Esch CE, et al. Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant. Psychopharmacology (Berl) 2012; Epub ahead of print
  • Dölen G, Osterweil E, Rao BS, et al. Correction of fragile X syndrome in mice. Neuron 2007;56:955-62
  • Thomas AM, Bui N, Graham D, et al. Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome. Behav Brain Res 2011;223:310-21
  • Marcus RN, Owen R, Kamen L, et al. A placebo-controlled, fixed-dose study of aripiprazole in children and adolescents with irritability associated with autistic disorder. J Am Acad Child Adolesc Psychiatry 2009;48:1110-19
  • McCracken JT, McGough J, Shah B, et al. Risperidone in children with autism and serious behavioral problems. N Engl J Med 2002;347:314-21
  • Owen R, Sikich L, Marcus RN, et al. Aripiprazole in the treatment of irritability in children and adolescents with autistic disorder. Pediatrics 2009;124:1533-40
  • Shea S, Turgay A, Carroll A, et al. Risperidone in the treatment of disruptive behavioral symptoms in children with autistic and other pervasive developmental disorders. Pediatrics 2004;114:e634-41
  • Aman MG, Singh NN, Stewart AW, Field CJ. The aberrant behavior checklist: a behavior rating scale for the assessment of treatment effects. Am J Ment Defic 1985;89:485-91
  • Bailey DB Jr, Raspa M, Bishop E, et al. Health and economic consequences of fragile X syndrome for caregivers. J Dev Behav Pediatr 2012;33:705-12
  • McBride S, Choi CH, Wang Y, et al. Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a model of fragile X syndrome. Neuron 2005;45:753-64
  • Bauschwitz R. GSK3 inhibitors and mgluR5 antagonists can produce an additive rescue of fragile X mouse phenotypes. Presented at the 10th International Fragile X Conference; July 2007; Atlanta, GA, USA
  • Mines MA, Jope RS. Glycogen synthase kinase-3: a promising therapeutic target for fragile X syndrome. Front Mol Neurosci 2011;4:35
  • Berry-Kravis E, Sumis A, Hervey C, et al. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr 2008;29:293-302
  • Erickson CA, Stigler KA, Wink LK, et al. A prospective open-label study of aripiprazole in fragile X syndrome. Psychopharmacology (Berl) 2011;216:85-90
  • Bilousova TV, Dansie L, Ngo M, et al. Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model. J Med Genet 2009;46:94-102
  • Paribello C, Tao L, Folino A, et al. Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol 2010;10:91
  • Leigh MJ, Nguyen DV, Mu Y, et al. A randomized double-blind, placebo-controlled trial of minocycline in children and adolescents with fragile x syndrome. J Dev Behav Pediatr 2013;34:147-55
  • Jacquemont S, Curie A, des Portes V, et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 2011;3:64ra1
  • Berry-Kravis E, Hessl D, Rathmell B, et al. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med 2012;4:152ra127
  • Berry-Kravis E, Hessl D, Coffey S, et al. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet 2009;46:266-71
  • Sansone SM, Widaman KF, Hall SS, et al. Psychometric study of the aberrant behavior checklist in fragile X syndrome and implications for targeted treatment. J Autism Dev Disord 2012;42:1377-92
  • Jaecklin T, Angelov A, des Portes V, et al. Validation of the revised aberrant behavior checklist for fragile X syndrome using randomized controlled data. Presented at the 13th International Fragile X Conference; 25 – 29 July 2012; Miami, FL, USA

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