Clinical trial NCT01777542 - References

Rett Syndrome — Treatment of Rett Syndrome With Recombinant Human IGF-1

Citation(s)

•   Aberg MA, Aberg ND, Hedbäcker H, Oscarsson J, Eriksson PS
  Peripheral infusion of IGF-I selectively induces neurogenesis in the adult rat hippocampus. J Neurosci. 2000 Apr 15;20(8):2896-903.
•   Acampa M, Guideri F
  Cardiac disease and Rett syndrome. Arch Dis Child. 2006 May;91(5):440-3. Review.
•   Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY
  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct;23(2):185-8.
•   Arnold LE, Christopher J, Huestis R, Smeltzer DJ
  Methylphenidate vs dextroamphetamine vs caffeine in minimal brain dysfunction: controlled comparison by placebo washout design with Bayes' analysis. Arch Gen Psychiatry. 1978 Apr;35(4):463-73.
•   Arnold LE, Huestis RD, Smeltzer DJ, Scheib J, Wemmer D, Colner G
  Levoamphetamine vs dextroamphetamine in minimal brain dysfunction. Replication, time response, and differential effect by diagnostic group and family rating. Arch Gen Psychiatry. 1976 Mar;33(3):292-301.
•   Arnold LE, Vitiello B, McDougle C, Scahill L, Shah B, Gonzalez NM, Chuang S, Davies M, Hollway J, Aman MG, Cronin P, Koenig K, Kohn AE, McMahon DJ, Tierney E
  Parent-defined target symptoms respond to risperidone in RUPP autism study: customer approach to clinical trials. J Am Acad Child Adolesc Psychiatry. 2003 Dec;42(12):1443-50.
•   Arnold LE, Wender PH, McCloskey K, Snyder SH
  Levoamphetamine and dextroamphetamine: comparative efficacy in the hyperkinetic syndrome. Assessment by target symptoms. Arch Gen Psychiatry. 1972 Dec;27(6):816-22.
•   Barnes KV, Coughlin FR, O'Leary HM, Bruck N, Bazin GA, Beinecke EB, Walco AC, Cantwell NG, Kaufmann WE
  Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales. J Neurodev Disord. 2015;7(1):30. doi: 10.1186/s11689-015-9127-4. Epub 2015 Sep 15.
•   Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H
  Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec.
•   Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson SA, Hagerman R
  Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol. 2006 Oct;16(5):525-40.
•   Bondy CA
  Transient IGF-I gene expression during the maturation of functionally related central projection neurons. J Neurosci. 1991 Nov;11(11):3442-55.
•   Carter AS, Volkmar FR, Sparrow SS, Wang JJ, Lord C, Dawson G, Fombonne E, Loveland K, Mesibov G, Schopler E
  The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism. J Autism Dev Disord. 1998 Aug;28(4):287-302.
•   Castro J, Garcia RI, Kwok S, Banerjee A, Petravicz J, Woodson J, Mellios N, Tropea D, Sur M
  Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome. Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9941-6. doi: 10.1073/pnas.1311685111. Epub 2014 Jun 23.
•   Chang Q, Khare G, Dani V, Nelson S, Jaenisch R
  The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron. 2006 Feb 2;49(3):341-8.
•   Chao HT, Zoghbi HY, Rosenmund C
  MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 4;56(1):58-65.
•   Chen RZ, Akbarian S, Tudor M, Jaenisch R
  Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001 Mar;27(3):327-31.
•   Cohen DR, Matarazzo V, Palmer AM, Tu Y, Jeon OH, Pevsner J, Ronnett GV
  Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neurosci. 2003 Apr;22(4):417-29.
•   Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB
  Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12560-5. Epub 2005 Aug 22.
•   Esbensen AJ, Rojahn J, Aman MG, Ruedrich S
  Reliability and validity of an assessment instrument for anxiety, depression, and mood among individuals with mental retardation. J Autism Dev Disord. 2003 Dec;33(6):617-29.
•   Fidler DJ, Hepburn S, Rogers S
  Early learning and adaptive behaviour in toddlers with Down syndrome: evidence for an emerging behavioural phenotype? Downs Syndr Res Pract. 2006 Jun;9(3):37-44.
•   Gemelli T, Berton O, Nelson ED, Perrotti LI, Jaenisch R, Monteggia LM
  Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry. 2006 Mar 1;59(5):468-76. Epub 2005 Sep 30.
•   Giacometti E, Luikenhuis S, Beard C, Jaenisch R
  Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci U S A. 2007 Feb 6;104(6):1931-6. Epub 2007 Jan 31.
•   Guy J, Hendrich B, Holmes M, Martin JE, Bird A
  A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001 Mar;27(3):322-6.
•   Hagberg B
  Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61-5. Review.
•   Johnston MV, Jeon OH, Pevsner J, Blue ME, Naidu S
  Neurobiology of Rett syndrome: a genetic disorder of synapse development. Brain Dev. 2001 Dec;23 Suppl 1:S206-13. Review.
•   Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Engerström IW, Engerström L, Jamal GA, Hansen S
  Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001 Jul;85(1):29-37.
•   Kaufmann WE, MacDonald SM, Altamura CR
  Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett syndrome. Cereb Cortex. 2000 Oct;10(10):992-1004.
•   Kaufmann WE, Taylor CV, Hohmann CF, Sanwal IB, Naidu S
  Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates. Eur Child Adolesc Psychiatry. 1997;6 Suppl 1:75-7. Erratum in: Eur Child Adolesc Psychiatry 1998 Jun;7(2):124.
•   Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S
  Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res. 2012 Mar;56(3):233-47. doi: 10.1111/j.1365-2788.2011.01404.x. Epub 2011 Mar 8.
•   Khwaja OS, Ho E, Barnes KV, O'Leary HM, Pereira LM, Finkelstein Y, Nelson CA 3rd, Vogel-Farley V, DeGregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE
  Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):4596-601. doi: 10.1073/pnas.1311141111. Epub 2014 Mar 12.
•   Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A
  Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell. 1993 Oct 8;75(1):59-72.
•   Lopez-Lopez C, LeRoith D, Torres-Aleman I
  Insulin-like growth factor I is required for vessel remodeling in the adult brain. Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9833-8. Epub 2004 Jun 21.
•   McCracken JT, McGough J, Shah B, Cronin P, Hong D, Aman MG, Arnold LE, Lindsay R, Nash P, Hollway J, McDougle CJ, Posey D, Swiezy N, Kohn A, Scahill L, Martin A, Koenig K, Volkmar F, Carroll D, Lancor A, Tierney E, Ghuman J, Gonzalez NM, Grados M, Vitiello B, Ritz L, Davies M, Robinson J, McMahon D; Research Units on Pediatric Psychopharmacology Autism Network
  Risperidone in children with autism and serious behavioral problems. N Engl J Med. 2002 Aug 1;347(5):314-21.
•   Mirrett PL, Bailey DB Jr, Roberts JE, Hatton DD
  Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome. J Dev Behav Pediatr. 2004 Feb;25(1):21-7.
•   Mount RH, Charman T, Hastings RP, Reilly S, Cass H
  The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry. 2002 Nov;43(8):1099-110.
•   Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A
  Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature. 1998 May 28;393(6683):386-9.
•   Nelson ED, Kavalali ET, Monteggia LM
  MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr Biol. 2006 Apr 4;16(7):710-6.
•   Pan W, Kastin AJ
  Interactions of IGF-1 with the blood-brain barrier in vivo and in situ. Neuroendocrinology. 2000 Sep;72(3):171-8.
•   Percy AK
  Clinical trials and treatment prospects. Ment Retard Dev Disabil Res Rev. 2002;8(2):106-11. Review.
•   Picard RW
  Future affective technology for autism and emotion communication. Philos Trans R Soc Lond B Biol Sci. 2009 Dec 12;364(1535):3575-84. doi: 10.1098/rstb.2009.0143. Review.
•   Pini G, Scusa MF, Congiu L, Benincasa A, Morescalchi P, Bottiglioni I, Di Marco P, Borelli P, Bonuccelli U, Della-Chiesa A, Prina-Mello A, Tropea D
  IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients. Autism Res Treat. 2012;2012:679801. doi: 10.1155/2012/679801. Epub 2012 Jun 13.
•   Poh MZ, Swenson NC, Picard RW
  A wearable sensor for unobtrusive, long-term assessment of electrodermal activity. IEEE Trans Biomed Eng. 2010 May;57(5):1243-52. doi: 10.1109/TBME.2009.2038487. Epub 2010 Feb 17.
•   Ramsey MM, Adams MM, Ariwodola OJ, Sonntag WE, Weiner JL
  Functional characterization of des-IGF-1 action at excitatory synapses in the CA1 region of rat hippocampus. J Neurophysiol. 2005 Jul;94(1):247-54.
•   Riikonen R, Makkonen I, Vanhala R, Turpeinen U, Kuikka J, Kokki H
  Cerebrospinal fluid insulin-like growth factors IGF-1 and IGF-2 in infantile autism. Dev Med Child Neurol. 2006 Sep;48(9):751-5.
•   Rojahn J, Rowe EW, Kasdan S, Moore L, van Ingen DJ
  Psychometric properties of the Aberrant Behavior Checklist, the Anxiety, Depression and Mood Scale, the Assessment of Dual Diagnosis and the Social Performance Survey Schedule in adults with intellectual disabilities. Res Dev Disabil. 2011 Nov-Dec;32(6):2309-20. doi: 10.1016/j.ridd.2011.07.035. Epub 2011 Sep 1.
•   Schultz RJ, Glaze DG, Motil KJ, Armstrong DD, del Junco DJ, Hubbard CR, Percy AK
  The pattern of growth failure in Rett syndrome. Am J Dis Child. 1993 Jun;147(6):633-7.
•   Schuman EM
  Neurotrophin regulation of synaptic transmission. Curr Opin Neurobiol. 1999 Feb;9(1):105-9. Review.
•   Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H
  Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18;35(2):243-54.
•   Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY
  Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15;11(2):115-24.
•   Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, Flannery R, Jaenisch R, Sur M
  Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):2029-34. doi: 10.1073/pnas.0812394106.
•   Tropea D, Kreiman G, Lyckman A, Mukherjee S, Yu H, Horng S, Sur M
  Gene expression changes and molecular pathways mediating activity-dependent plasticity in visual cortex. Nat Neurosci. 2006 May;9(5):660-8. Epub 2006 Apr 23.
•   Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Silvestri JM, Ramirez JM
  Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res. 2006 Oct;60(4):443-9. Epub 2006 Aug 28.
•   Wetherby AM, Allen L, Cleary J, Kublin K, Goldstein H
  Validity and reliability of the communication and symbolic behavior scales developmental profile with very young children. J Speech Lang Hear Res. 2002 Dec;45(6):1202-18.
•   Williamson SL, Christodoulou J
  Rett syndrome: new clinical and molecular insights. Eur J Hum Genet. 2006 Aug;14(8):896-903. Review.
•   Xing C, Yin Y, Chang R, Gong X, He X, Xie Z
  Effects of insulin-like growth factor 1 on synaptic excitability in cultured rat hippocampal neurons. Exp Neurol. 2007 May;205(1):222-9. Epub 2007 Feb 7.
•   Yoshii A, Constantine-Paton M
  BDNF induces transport of PSD-95 to dendrites through PI3K-AKT signaling after NMDA receptor activation. Nat Neurosci. 2007 Jun;10(6):702-11. Epub 2007 May 21.
•   Zheng WH, Quirion R
  Comparative signaling pathways of insulin-like growth factor-1 and brain-derived neurotrophic factor in hippocampal neurons and the role of the PI3 kinase pathway in cell survival. J Neurochem. 2004 May;89(4):844-52.

Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation With Recombinant Human IGF-1(Mecasermin [rDNA] Injection)

Details for clinical trial NCT01777542