Phase 2
Completed N=18
Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Phelan-McDermid Syndrome
Source: ClinicalTrials.gov NCT02710084 ↗
Enrolled (actual)
18
Serious AEs
0.0%
Results posted
Dec 2021
Primary outcomePrimary: Change in Aberrant Behavior Checklist — -7.44; -2.42; -5; -1.71 score on a scale
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.
Outcome Measures
| Outcome | Result | p-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 | — |
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
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. Informational only — not medical advice.