IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients / Giorgio PINI in Autism Research and Treatment, (April 2012)  

Public ISBD [article]  inAutism Research and Treatment > (April 2012) . - 14 p. Titre : IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients Type de document : Texte imprimé et/ou numérique Auteurs : Giorgio PINI, Auteur ; Maria Flora SCUSA, Auteur ; Laura CONGIU, Auteur ; Alberto BENINCASA, Auteur ; Paolina MORESCALCHI, Auteur ; Ilaria BOTTIGLIONI, Auteur ; Pietro DI MARCO, Auteur ; Paolo BORELLI, Auteur ; Ubaldo BONUCCELLI, Auteur ; Andrea DELLA-CHIESA, Auteur ; Adriele PRINA-MELLO, Auteur ; Daniela TROPEA, Auteur Année de publication : 2012 Article en page(s) : 14 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration. En ligne : http://dx.doi.org/10.1155/2012/679801 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 [article] IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients [Texte imprimé et/ou numérique] / Giorgio PINI, Auteur ; Maria Flora SCUSA, Auteur ; Laura CONGIU, Auteur ; Alberto BENINCASA, Auteur ; Paolina MORESCALCHI, Auteur ; Ilaria BOTTIGLIONI, Auteur ; Pietro DI MARCO, Auteur ; Paolo BORELLI, Auteur ; Ubaldo BONUCCELLI, Auteur ; Andrea DELLA-CHIESA, Auteur ; Adriele PRINA-MELLO, Auteur ; Daniela TROPEA, Auteur . - 2012 . - 14 p. Langues : Anglais (eng) in Autism Research and Treatment > (April 2012) . - 14 p. Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration. En ligne : http://dx.doi.org/10.1155/2012/679801 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) / G. PINI in Autism Research and Treatment, 2016 (2016)  

Public ISBD [article]  inAutism Research and Treatment > 2016 (2016) Titre : Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) Type de document : Texte imprimé et/ou numérique Auteurs : G. PINI, Auteur ; L. CONGIU, Auteur ; Alberto BENINCASA, Auteur ; P. DIMARCO, Auteur ; S. BIGONI, Auteur ; A. H. DYER, Auteur ; N. MORTIMER, Auteur ; A. DELLA-CHIESA, Auteur ; S. O'LEARY, Auteur ; R. MCNAMARA, Auteur ; K. J. MITCHELL, Auteur ; M. GILL, Auteur ; D. TROPEA, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p = 0.0106) and RSS (p = 0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum. En ligne : http://dx.doi.org/10.1155/2016/5073078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332 [article] Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1) [Texte imprimé et/ou numérique] / G. PINI, Auteur ; L. CONGIU, Auteur ; Alberto BENINCASA, Auteur ; P. DIMARCO, Auteur ; S. BIGONI, Auteur ; A. H. DYER, Auteur ; N. MORTIMER, Auteur ; A. DELLA-CHIESA, Auteur ; S. O'LEARY, Auteur ; R. MCNAMARA, Auteur ; K. J. MITCHELL, Auteur ; M. GILL, Auteur ; D. TROPEA, Auteur. Langues : Anglais (eng) in Autism Research and Treatment > 2016 (2016) Index. décimale : PER Périodiques Résumé : Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an apparently normal development followed by an arrest and subsequent regression of cognitive and psychomotor abilities. At present, RTT has no definitive cure and the treatment of RTT represents a largely unmet clinical need. Following partial elucidation of the underlying neurobiology of RTT, a new treatment has been proposed, Mecasermin (recombinant human Insulin-Like Growth Factor 1), which, in addition to impressive evidence from preclinical murine models of RTT, has demonstrated safety in human studies of patients with RTT. The present clinical study examines the disease severity as assessed by clinicians (International Scoring System: ISS), social and cognitive ability assessed by two blinded, independent observers (RSS: Rett Severity Score), and changes in brain activity (EEG) parameters of ten patients with classic RTT and ten untreated patients matched for age and clinical severity. Significant improvement in both the ISS (p = 0.0106) and RSS (p = 0.0274) was found in patients treated with IGF1 in comparison to untreated patients. Analysis of the novel RSS also suggests that patients treated with IGF1 have a greater endurance to social and cognitive testing. The present clinical study adds significant preliminary evidence for the use of IGF-1 in the treatment of RTT and other disorders of the autism spectrum. En ligne : http://dx.doi.org/10.1155/2016/5073078 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=332

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