Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome

NCT02710084 | Completed Phase 2 Results DMC

• 1 other identifier: GCO 15-1223
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 1

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.

Conditions

Phelan-McDermid Syndrome

Outcome Measures

Primary Outcomes (1)

• Change in Aberrant Behavior Checklist

  Change in scale at week 12 as compared to baseline. Aberrant Behavior Checklist - behavior rating subscales for the assessment of treatment effects.16 items, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score range from 0 to 48, with higher score indicating poorer health outcomes.

  Baseline and Week 12

Secondary Outcomes (12)

• Change in Visual Paired Comparison (VPC) Task

  Baseline and Week 12

• Change in Gap-Overlap Task

  Baseline and Week 12

• Change in Flicker Tasks

  Baseline and Week 12

• Change in Vineland Adaptive Behavior Scales

  Baseline and Week 12

• Change in Repetitive Behavior Scale-Revised (RBS-R)

  Baseline and Week 12

Study Arms (2)

Oxytocin

EXPERIMENTAL

The first phase of the study will follow a double-blind, placebo-controlled design. Participants randomized to the experimental group will receive intranasal oxytocin in doses of 24 IU, two times daily, for a total of 48 IU. Doses may be reduced by 8 IU/day if safety concerns emerge. During the second phase of the study, all participants will receive oxytocin, in identical doses.

Drug: Oxytocin

Saline

PLACEBO COMPARATOR

During the first phase, patients randomized to the placebo group will receive intranasal saline solution in doses of 24 IU two times daily, for a total of 48 IU. During the second phase of the study, all participants will receive oxytocin, in identical doses.

Drug: Saline

Interventions

Oxytocin DRUG

Intranasal oxytocin

Also known as: Syntocinon

Oxytocin

Saline DRUG

Placebo

Saline

Eligibility Criteria

• Age: 5 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Alexander Kolevzon: lead

Study Sites (1)

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

Related Publications (1)

• 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.

  PMID: 34593045 RESULT

MeSH Terms

Conditions

Telomeric 22q13 Monosomy Syndrome

Interventions

Oxytocin; Sodium Chloride

Intervention Hierarchy (Ancestors)

Pituitary Hormones, Posterior; Pituitary Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Peptides; Amino Acids, Peptides, and Proteins; Chlorides; Hydrochloric Acid; Chlorine Compounds; Inorganic Chemicals; Sodium Compounds

Limitations and Caveats

The 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.

Results Point of Contact

• Title: Alexander Kolevzon, MD
• Organization: Icahn School of Medicine at Mount Sinai

alexander.kolevzon@mssm.edu

212-659-9134

Study Officials

• Alexander Kolevzon, MD

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Alexander Kolevzon, Clinical Director

Study Record Dates

• First Submitted: March 7, 2016
• First Posted: March 16, 2016
• Study Start: April 29, 2016
• Primary Completion: July 29, 2020
• Study Completion: July 29, 2020
• Last Updated: December 6, 2021
• Results First Posted: December 6, 2021

Record last verified: 2021-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)