A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome.

Fastman J, Foss-Feig J, Frank Y, Halpern D, Harony-Nicolas H, Layton C, Sandin S, Siper P, Tang L, Trelles P, Zweifach J, Buxbaum JD, Kolevzon A

Molecular autism30 Sept 2021Cited by 18 (Europe PMC)

PMID34593045PMCIDPMC8482590DOI10.1186/s13229-021-00459-1PepBankPUB-34593045

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Summary

BackgroundPhelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene and characterized by global developmental delays, deficits in speech and motor function, and autism spectrum disorder (ASD). Monogenic causes of ASD such as PMS are well suited to investigations with novel therapeutics, as interventions can be targeted based on established genetic etiology. While preclinical studies have demonstrated that the neuropeptide oxytocin can reverse electrophysiological, attentional, and social recognition memory deficits in Shank3-deficient rats, there have been no trials in individuals with PMS. The purpose of this study is to assess the efficacy and safety of intranasal oxytocin as a treatment for the core symptoms of ASD in a cohort of children with PMS.MethodsEighteen children aged 5-17 with PMS were enrolled. Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as a number of secondary outcome measures related to the core symptoms of ASD. Safety was monitored throughout the study period.ResultsThere was no statistically significant improvement with oxytocin as compared to placebo on the ABC-SW (Mann-Whitney U = 50, p = 0.055), or on any secondary outcome measures, during either the double-blind or open-label phases. Oxytocin was generally well tolerated, and there were no serious adverse events.LimitationsThe small sample size, potential challenges with drug administration, and expectancy bias due to relying on parent reported outcome measures may all contribute to limitations in interpreting results.ConclusionOur results suggest that intranasal oxytocin is not efficacious in improving the core symptoms of ASD in children with PMS. Trial registration NCT02710084.

CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study4

4 results from studies that gave the peptide. 4 results from people.

01HumanRandomized controlled trialEfficacy outcome
In children with Phelan-McDermid syndrome, intranasal oxytocin gave no statistically significant improvement on the Aberrant Behavior Checklist-Social Withdrawal subscale compared with placebo.
In plain wordsIn children with Phelan-McDermid syndrome, oxytocin did not significantly improve social withdrawal scores compared with placebo.
Peptide
Oxytocin
Outcome
No significant changeABC-Social Withdrawal subscale
Study
n = 18
Comparator
Placebo
Analysis
Primary
Outcome group
Autism core symptoms · Nervous system and cognition
Studied dose
Dose not stated · intranasal · 12 weeks double-blind phase, then 12 weeks open-labelAs given in this study (human).
Source sentences
Summary
There was no statistically significant improvement with oxytocin as compared to placebo on the ABC-SW (Mann-Whitney U = 50, p = 0.055)
3 context sentences(design, population, supporting numbers)
Summary · context
Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as a number of secondary outcome measures related to the core symptoms of ASD.
Summary · context
Eighteen children aged 5-17 with PMS were enrolled.
Summary · context
Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin.
Show in the study text Report a problemFND-3459304501
02HumanRandomized controlled trialEfficacy outcome
In children with Phelan-McDermid syndrome, intranasal oxytocin gave no statistically significant improvement on any secondary outcome measure during the double-blind or open-label phases.
In plain wordsIn children with Phelan-McDermid syndrome, oxytocin did not significantly improve any secondary autism symptom measure compared with placebo.
Peptide
Oxytocin
Outcome
No significant changeSecondary outcome measures of core ASD symptoms
Study
n = 18
Comparator
Placebo
Analysis
Secondary
Outcome group
Autism core symptoms · Nervous system and cognition
Studied dose
Dose not stated · intranasal · 12 weeks double-blind phase, then 12 weeks open-labelAs given in this study (human).
Source sentences
Summary
or on any secondary outcome measures, during either the double-blind or open-label phases.
2 context sentences(design, population, supporting numbers)
Summary · context
Eighteen children aged 5-17 with PMS were enrolled.
Summary · context
Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin.
Show in the study text Report a problemFND-3459304502
03HumanRandomized controlled trialSafety outcome
In children with Phelan-McDermid syndrome, no serious adverse events occurred with intranasal oxytocin.
In plain wordsIn children with Phelan-McDermid syndrome, no serious side effects were reported with oxytocin.
Peptide
Oxytocin
Outcome
No significant changeSerious adverse events
Study
n = 18
Outcome group
Adverse events · Whole body
Studied dose
Dose not stated · intranasal · 12 weeks double-blind phase, then 12 weeks open-labelAs given in this study (human).
Source sentences
Summary
there were no serious adverse events.
2 context sentences(design, population, supporting numbers)
Summary · context
Eighteen children aged 5-17 with PMS were enrolled.
Summary · context
Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin.
Show in the study text Report a problemFND-3459304503
04HumanRandomized controlled trialSafety outcome
In children with Phelan-McDermid syndrome, intranasal oxytocin was generally well tolerated.
In plain wordsIn children with Phelan-McDermid syndrome, oxytocin was generally well tolerated.
Peptide
Oxytocin
Outcome
Not applicableTolerability
Study
n = 18
Outcome group
Adverse events · Whole body
Studied dose
Dose not stated · intranasal · 12 weeks double-blind phase, then 12 weeks open-labelAs given in this study (human).
Source sentences
Summary
Oxytocin was generally well tolerated
2 context sentences(design, population, supporting numbers)
Summary · context
Eighteen children aged 5-17 with PMS were enrolled.
Summary · context
Participants were randomized to receive intranasal oxytocin or placebo (intranasal saline) and underwent treatment during a 12-week double-blind, parallel group phase, followed by a 12-week open-label extension phase during which all participants received oxytocin.
Show in the study text Report a problemFND-3459304504

AI wrote and checked these results. AI can make mistakes, so check important results against the source.

Registered trials1

Trials this study reports on, or that list this study as a reference. Registry data from ClinicalTrials.gov.

1 trial · 1 completed · 1 with posted results · source ClinicalTrials.gov (opens in a new tab)

CompletedPhase 2Results postedNCT02710084

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Alexander Kolevzonn = 1829 Apr 2016 to 29 Jul 2020

Phelan-McDermid Syndrome

Trial page ClinicalTrials.govUpdated 6 Dec 2021

Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

Version 2Current
11 Oct 2026, 00:50 UTC
Study results updated
Version 1
9 Oct 2026, 02:48 UTC
First added · source update from Europe PMC

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