Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study
详细信息    查看全文
  • 作者:Donald B. Bailey Jr. ; Elizabeth Berry-Kravis…
  • 关键词:Mavoglurant ; AFQ056 ; Fragile X syndrome ; Clinical Global Impression ; Improvement ; CGI ; I
  • 刊名:Journal of Neurodevelopmental Disorders
  • 出版年:2016
  • 出版时间:December 2016
  • 年:2016
  • 卷:8
  • 期:1
  • 全文大小:698 KB
  • 参考文献:1.Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;65:905–14.CrossRef PubMed
    2.Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. Screening for fragile X syndrome: a literature review and modelling study. Health Technol Assess. 2003;7:1–106.CrossRef
    3.Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014;164A:1648–58.CrossRef PubMed
    4.Berry-Kravis E, Knox A, Hervey C. Targeted treatments for fragile X syndrome. J Neurodev Disord. 2011;3:193–210.PubMedCentral CrossRef PubMed
    5.Gross C, Berry-Kravis EM, Bassell GJ. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012;37:178–95.PubMedCentral CrossRef PubMed
    6.Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the treatment of fragile X syndrome. Pediatrics. 2009;123:378–90.PubMedCentral CrossRef PubMed
    7.Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66:817–22.CrossRef PubMed
    8.Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992;1:397–400.CrossRef PubMed
    9.Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med. 2001;3:200–5.PubMedCentral CrossRef PubMed
    10.Dictenberg JB, Swanger SA, Antar LN, Singer RH, Bassell GJ. A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. Dev Cell. 2008;14:926–39.PubMedCentral CrossRef PubMed
    11.Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, et al. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell. 2003;112:317–27.CrossRef PubMed
    12.Huber KM, Gallagher SM, Warren ST, Bear MF. Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc Natl Acad Sci U S A. 2002;99:7746–50.PubMedCentral CrossRef PubMed
    13.Bear MF, Huber KM, Warren ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004;27:370–7.CrossRef PubMed
    14.Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, et al. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009;46:266–71.PubMedCentral CrossRef PubMed
    15.Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, 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;3:64ra61.CrossRef
    16.Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK, et al. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013;34:508–22.PubMedCentral CrossRef PubMed
    17.Sansone SM, Widaman KF, Hall SS, Reiss AL, Lightbody A, Kaufmann WE, 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.PubMedCentral CrossRef PubMed
    18.Busner J, Targum SD. The clinical global impressions scale: applying a research tool in clinical practice. Psychiatry. 2007;4:28–37.PubMedCentral PubMed
    19.Guy W. CGI: Clinical global impressions. ECDEU assessment manual for psychopharmacology. 1976, revised:217-222.
    20.Leigh MJ, Nguyen DV, Mu Y, Winarni TI, Schneider A, Chechi T, 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.PubMedCentral CrossRef PubMed
    21.Targum SD, Busner J, Young AH. Targeted scoring criteria reduce variance in global impressions. Hum Psychopharmacol. 2008;23:629–33.CrossRef PubMed
    22.Targum SD, Houser C, Northcutt J, Little JA, Cutler AJ, Walling DP. A structured interview guide for global impressions: increasing reliability and scoring accuracy for CNS trials. Ann Gen Psychiatry. 2013;12:2.PubMedCentral CrossRef PubMed
    23.Spearing MK, Post RM, Leverich GS, Brandt D, Nolen W. Modification of the Clinical Global Impressions (CGI) Scale for use in bipolar illness (BP): the CGI-BP. Psychiatry Res. 1997;73:159–71.CrossRef PubMed
    24.Haro JM, Kamath SA, Ochoa S, Novick D, Rele K, Fargas A, et al. The Clinical Global Impression-Schizophrenia scale: a simple instrument to measure the diversity of symptoms present in schizophrenia. Acta Psychiatr Scand Suppl. 2003;416:16–23.CrossRef PubMed
    25.Schneider LS, Olin JT. Clinical global impressions in Alzheimer’s clinical trials. Int Psychogeriatr. 1996;8:277–90.CrossRef PubMed
    26.Kadouri A, Corruble E, Falissard B. The improved Clinical Global Impression Scale (iCGI): development and validation in depression. BMC Psychiatry. 2007;7:7.PubMedCentral CrossRef PubMed
    27.Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, et al. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016;8:321ra5.
    28.de Vrij FMS, Levenga J, van der Linde HC, Koekkoek SK, De Zeeuw CI, Nelson DL, et al. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol Dis. 2008;31:127–32.PubMedCentral CrossRef PubMed
    29.Pop AS, Levenga J, de Esch CE, Buijsen RA, Nieuwenhuizen IM, Li T, et al. Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/mavoglurant. Psychopharmacology (Berl). 2014;231:1227–35.CrossRef
    30.Su T, Fan HX, Jiang T, Sun WW, Den WY, Gao MM, et al. Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome. Psychopharmacology (Berl). 2011;215:291–300.CrossRef
    31.Thomas A, Bui N, Perkins J, Yuva-Paylor L, Paylor R. Group I metabotropic glutamate receptor antagonists alter select behaviors in a mouse model for fragile X syndrome. Psychopharmacology (Berl). 2012;219:47–58.CrossRef
    32.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.CrossRef PubMed
    33.Michalon A, Sidorov M, Ballard TM, Ozmen L, Spooren W, Wettstein JG, et al. Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Neuron. 2012;74:49–56.CrossRef PubMed
    34.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.PubMed
    35.Aman MG, Burrow WH, Wolford PL. The Aberrant Behavior Checklist-Community: factor validity and effect of subject variables for adults in group homes. Am J Ment Retard. 1995;100:283–92.PubMed
    36.Wheeler A, Raspa M, Bann C, Bishop E, Hessl D, Sacco P, et al. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome. Am J Med Genet A. 2014;164A:141–55.CrossRef PubMed
  • 作者单位:Donald B. Bailey Jr. (1)
    Elizabeth Berry-Kravis (2)
    Anne Wheeler (1)
    Melissa Raspa (1)
    Florence Merrien (3)
    Javier Ricart (4)
    Barbara Koumaras (5)
    Gerd Rosenkranz (3)
    Mark Tomlinson (3)
    Florian von Raison (3)
    George Apostol (3)

    1. RTI International, Research Triangle Park, Durham, NC, USA
    2. Department of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Centre, Chicago, IL, 60612, USA
    3. Neuroscience Development, Novartis Pharma AG, Basel, Switzerland
    4. Novartis Pharma, Barcelona, Spain
    5. Neurodegeneration Global Development, Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA
  • 刊物主题:Neurosciences; Neurobiology; Neuropsychology; Psychiatry; Human Genetics; Pediatrics;
  • 出版者:BioMed Central
  • ISSN:1866-1955
文摘
Background A phase II randomized, placebo-controlled, double-blind study and subsequent open-label extension study evaluated the efficacy, safety, and tolerability of mavoglurant (AFQ056), a selective metabotropic glutamate receptor subtype-5 antagonist, in treating behavioral symptoms in adolescent patients with fragile X syndrome (FXS). A novel method was applied to analyze changes in symptom domains in patients with FXS using the narratives associated with the clinician-rated Clinical Global Impression-Improvement (CGI-I) scale.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700