Clinical trial NCT02710084: Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Official title: Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Phelan-McDermid Syndrome
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
First posted: 2016-03-16
Enrollment: 18
Sex: ALL
Minimum age (years): 5
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

Brief 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

Primary outcomes:
measure: Change in Aberrant Behavior Checklist
timeFrame: Baseline and Week 12
Secondary outcomes:
measure: Change in Visual Paired Comparison (VPC) Task
timeFrame: Baseline and Week 12
measure: Change in Gap-Overlap Task
timeFrame: Baseline and Week 12
measure: Change in Flicker Tasks
timeFrame: Baseline and Week 12
measure: Change in Vineland Adaptive Behavior Scales
timeFrame: Baseline and Week 12
measure: Change in Repetitive Behavior Scale-Revised (RBS-R)
timeFrame: Baseline and Week 12
measure: Change in Clinical Global Impression - Severity Scales
timeFrame: Baseline and Week 12
measure: Change in Short Sensory Profile (SSP)
timeFrame: Baseline and Week 12
measure: Change in Macarthur-Bates Communicative Development Inventory (MCDI)
timeFrame: Baseline and Week 12
measure: Change in EEG Tasks: Auditory Habituation
timeFrame: Baseline and Week 12
measure: Number of Adverse Events
timeFrame: week 12
measure: Change in Caregiver Strain Index
timeFrame: Baseline and Week 12
measure: Change in Mullen Scales of Early Learning (MSEL)
timeFrame: baseline and 12 weeks.
Other outcomes:
Locations:
city: New York
country: United States
facility: Icahn School of Medicine at Mount Sinai
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Alexander Kolevzon, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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. A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome. Mol Autism. 2021 Sep 30;12(1):62. doi: 10.1186/s13229-021-00459-1.