title: IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients.
abstract: 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.
authors.affiliation: Tuscany Rett Center, Versilia Hospital, 55043 Lido di Camaiore, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Pini
authors.forename: Maria Flora
authors.initials: MF
authors.lastname: Scusa
authors.forename: Laura
authors.initials: L
authors.lastname: Congiu
authors.forename: Alberto
authors.initials: A
authors.lastname: Benincasa
authors.forename: Paolina
authors.initials: P
authors.lastname: Morescalchi
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bottiglioni
authors.forename: Pietro
authors.initials: P
authors.lastname: Di Marco
authors.forename: Paolo
authors.initials: P
authors.lastname: Borelli
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Della-Chiesa
authors.forename: Adriele
authors.initials: A
authors.lastname: Prina-Mello
authors.forename: Daniela
authors.initials: D
authors.lastname: Tropea