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Open Access 01-12-2022 | Autism Spectrum Disorder | Letter to the Editor

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

Authors: A. Kolevzon, M. S. Breen, P. M. Siper, D. Halpern, Y. Frank, H. Rieger, J. Weismann, M. P. Trelles, B. Lerman, R. Rapaport, J. D. Buxbaum

Published in: Molecular Autism | Issue 1/2022

Abstract

Background

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD). Based on several converging lines of preclinical and clinical evidence supporting the use of insulin-like growth factor-1 (IGF-1) in PMS, this study aims to follow-up a previous pilot study with IGF-1 to further evaluate this novel therapeutic for core symptoms of ASD in children with PMS.

Methods

Ten children aged 5–9 with PMS were enrolled. Participants were randomized to receive IGF-1 or placebo (saline) using a 12-week, double-blind, crossover design. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist—Social Withdrawal (ABC-SW) subscale as well as secondary outcome measures reflecting core symptoms of ASD. To increase power and sample size, we jointly analyzed the effect of IGF-1 reported here together with results from our previous controlled trail of IGF-1 in children with PMS (combined N = 19).

Results

Results on the ABC-SW did not reach statistical significance, however significant improvements in sensory reactivity symptoms were observed. In our pooled analyses, IGF-1 treatment also led to significant improvements in repetitive behaviors and hyperactivity. There were no other statistically significant effects seen across other clinical outcome measures. IGF-1 was well tolerated and there were no serious adverse events.

Limitations

The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results.

Conclusion

IGF-1 is efficacious in improving sensory reactivity symptoms, repetitive behaviors, and hyperactivity in children with PMS.

Trial registration NCT01525901.

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Title: Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome
Authors: A. Kolevzon
M. S. Breen
P. M. Siper
D. Halpern
Y. Frank
H. Rieger
J. Weismann
M. P. Trelles
B. Lerman
R. Rapaport
J. D. Buxbaum
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Autism Spectrum Disorder
Insulins
Insulins
Published in: Molecular Autism / Issue 1/2022
Electronic ISSN: 2040-2392
DOI: https://doi.org/10.1186/s13229-022-00493-7

At a glance: The STEP trials

Springer Medicine

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

Abstract

Background

Methods

Results

Limitations

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Limitations

Conclusion

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