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Autism Research and Treatment
Volume 2016 (2016), Article ID 5073078, 9 pages
Clinical Study

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1)

1Tuscany Rett Center, Ospedale Versilia, 55043 Lido di Camaiore, Italy
2School of Medicine, Trinity College Dublin, College Green, Dublin 2, Ireland
3Department of Genetics, Trinity College Dublin, College Green, Dublin 2, Ireland
4Trinity College Institute of Neuroscience, College Green, Dublin 2, Ireland
5Department of Psychiatry, Trinity College Dublin, College Green, Dublin 2, Ireland
6Neuropsychiatric Genetics, Trinity Centre for Health Sciences, St. James Hospital, Dublin 8, Ireland

Received 24 August 2015; Revised 25 December 2015; Accepted 29 December 2015

Academic Editor: Robert F. Berman

Copyright © 2016 Giorgio Pini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 () and RSS () 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.