Journal Article


Daniela Tropea
Michael Gill
Kevin J Mitchell
Rachel McNamara
Sean O'Leary
Andrea Della-Chiesa
Niall Mortimer
Adam H Dyer
Stefania Bigoni
Pietro DiMarco
and 3 others



novel the rett syndrome neurodevelopmental disorder international system scoring system clinical study cognitive ability human

Illness Severity, Social and Cognitive Ability, and EEG Analysis of Ten Patients with Rett Syndrome Treated with Mecasermin (Recombinant Human IGF-1). (2015)

Abstract 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.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Daniela Tropea, Michael Gill, Kevin J Mitchell, Rachel McNamara, Sean O'Leary, Andrea Della-Chiesa, Niall Mortimer, Adam H Dyer, Stefania Bigoni, Pietro DiMarco and 3 others

Experts in our system

Daniela Tropea
Trinity College Dublin
Total Publications: 25
Michael Gill
Trinity College Dublin
Total Publications: 260
Kevin J Mitchell
Trinity College Dublin
Total Publications: 46
Adam H Dyer
Trinity College Dublin
Total Publications: 3