Type

Journal Article

Authors

Daniela Tropea
Michael Gill
Aiden Corvin
Seán O'Leary
Rachel McNamara
Chetti Puccetti
Ilaria Gemo
Anna Maria Romanelli
Cyrus Vadhatpour
Laura Congiu
and 4 others

Subjects

Psychiatry

Topics
single case study pre clinical clinical study methyl cpg binding protein 2 blood brain barrier rett syndrome brain development central nervous system

Repeated insulin-like growth factor 1 treatment in a patient with rett syndrome: a single case study. (2014)

Abstract Rett syndrome (RTT) is a devastating neurodevelopmental disorder that has no cure. Patients show regression of acquired skills, motor, and speech impairment, cardio-respiratory distress, microcephaly, and stereotyped hand movements. The majority of RTT patients display mutations in the gene that codes for the Methyl-CpG binding protein 2 (MeCP2), which is involved in the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function are good candidates for ameliorating the symptoms of RTT. In particular, insulin-like growth factor 1 (IGF1) and its active peptide (1-3) IGF1 cross the Blood Brain Barrier, and therefore are ideal treatments for RTT Indeed, both (1-3) IGF1 and IGF1 treatment significantly ameliorates RTT symptoms in a mouse model of the disease In a previous study, we established that IGF1 is safe and well tolerated on Rett patients. In this open label clinical case study, we assess the safety and tolerability of IGF1 administration in two cycles of the treatment. Before and after each cycle, we monitored the clinical and blood parameters, autonomic function, and social and cognitive abilities, and we found that IGF1 was well tolerated each time and did not induce any side effect, nor it interfered with the other treatments that the patient was undergoing. We noticed a moderate improvement in the cognitive, social, and autonomic abilities of the patient after each cycle but the benefits were not retained between the two cycles, consistent with the pre-clinical observation that treatments for RTT should be administered through life. We find that repeated IGF1 treatment is safe and well tolerated in Rett patients but observed effects are not retained between cycles. These results have applications to other pathologies considering that IGF1 has been shown to be effective in other disorders of the autism spectrum.
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Full list of authors on original publication

Daniela Tropea, Michael Gill, Aiden Corvin, Seán O'Leary, Rachel McNamara, Chetti Puccetti, Ilaria Gemo, Anna Maria Romanelli, Cyrus Vadhatpour, Laura Congiu and 4 others

Experts in our system

1
Daniela Tropea
Trinity College Dublin
Total Publications: 25
 
2
Michael Gill
Trinity College Dublin
Total Publications: 260
 
3
Aiden Corvin
Trinity College Dublin
Total Publications: 190