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Phase 2 N=18 Randomized Quadruple-blind Treatment

Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

Enrolled (actual)
18
Serious AEs
0.0%
Results posted
Dec 2021
Primary outcome: Primary: Change in Aberrant Behavior Checklist — -7.44; -2.42; -5; -1.71 score on a scale

Study Design & Population

Study type
Interventional
Phase
Phase 2
Interventions
Oxytocin (Drug); Saline (Drug)
Age
Pediatric · 5+ yrs
Sex
All
Sponsor
Alexander Kolevzon
Primary completion
Jul 2020

Outcome Measures

OutcomeResultp-value
PRIMARY
Change in Aberrant Behavior Checklist
-7.44; -2.42; -5; -1.71; -2.22; 0.57
SECONDARY
Change in Visual Paired Comparison (VPC) Task
0.01; 0.02; -0.38; 0.22
SECONDARY
Change in Gap-Overlap Task
63.81
SECONDARY
Change in Flicker Tasks
0.10; 0.30; -0.12; 0.03
SECONDARY
Change in Vineland Adaptive Behavior Scales
4; 2.83; 3.29; 1.17; 3; -0.5
SECONDARY
Change in Repetitive Behavior Scale-Revised (RBS-R)
-1.67; 0.29; -1.22; 1; -1.56; -0.14
SECONDARY
Change in Clinical Global Impression - Severity Scales
-0.11; -0.1
SECONDARY
Change in Short Sensory Profile (SSP)
2.56; 1.57; 1.67; 0.71; -0.67; 0.29
SECONDARY
Change in Macarthur-Bates Communicative Development Inventory (MCDI)
0.83; 1.43; -9.17; 7; 11.67; 2.57
SECONDARY
Change in EEG Tasks: Auditory Habituation
0.05; 0.12; 1.15; -3.48
SECONDARY
Number of Adverse Events
41; 35
SECONDARY
Change in Caregiver Strain Index
-1.83; -0.86
SECONDARY
Change in Mullen Scales of Early Learning (MSEL)
-1.57; -0.86; 0.29; 2.86; -0.29; 0.71

Summary

This is a pilot study examining the efficacy, safety and tolerability of intranasal oxytocin as a novel treatment in Phelan-McDermid syndrome (PMS). This study will utilize a randomized, placebo-controlled design for 12 weeks (phase 1), followed by an open-label extension for 12 weeks (phase 2). The purpose is to evaluate the effect of intranasal oxytocin on impairments in attention, social memory, socialization, language, and repetitive behaviors.

Eligibility Criteria

Inclusion criteria

  • Have a diagnosis of Phelan-McDermid syndrome defined by pathogenic deletion or mutation of the SHANK3 gene and confirmed by chromosomal microarray or sequencing.
  • Must be between the ages of 5 and 17
  • Must be on stable medication and psychosocial therapy regimens for at least three months prior to enrollment

Exclusion criteria

  • Allergy to oxytocin
  • Active cardiovascular disease, epilepsy, or renal disease that is not controlled by medication
  • Pregnant, lactating or refuse to practice contraception if sexually active
  • Have caretakers who are unable to speak English, be consistently present at visits to report on symptoms, or are otherwise judged unable to comply with the protocol by the study team
  • Comorbid conditions such that the patient is too medically compromised to participate
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT02710084). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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