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Autism Research and Treatment
Volume 2012, Article ID 679801, 14 pages
Clinical Study

IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients

1Tuscany Rett Center, Versilia Hospital, 55043 Lido di Camaiore, Italy
2Neurology Division, Versilia Hospital, 55043 Lido di Camaiore, Italy
3Department of Neurology, University of Pisa, 56126 Pisa, Italy
4Trinity College Institute for Neuroscience, College Green, Dublin 2, Ireland
5School of Medicine and CRANN, Trinity College Dublin, College Green, Dublin 2, Ireland
6Department of Psychiatry, Neuropsychiatric Genetics Research Group, Trinity Center for Health Sciences, St James Hospital, Dublin 8, Ireland
7Department of Brain and Cognitive Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA

Received 2 February 2012; Accepted 3 April 2012

Academic Editor: Louise Gallagher

Copyright © 2012 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 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.