- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02710084
Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Actual)
Phase
- Phase 2
Contacts and Locations
Study Locations
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New York
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New York, New York, United States, 10029
- Icahn School of Medicine at Mount Sinai
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: Randomized
- Interventional Model: Parallel Assignment
- Masking: Quadruple
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
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Experimental: Oxytocin
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.
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Intranasal oxytocin
Other Names:
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Placebo Comparator: Saline
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.
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Placebo
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Change in Aberrant Behavior Checklist
Time Frame: Baseline and Week 12
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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.
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Baseline and Week 12
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Change in Visual Paired Comparison (VPC) Task
Time Frame: Baseline and Week 12
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Change in VPC Task has 2 subscores at week 12 as compared to baseline.
The subject is initially presented with a target for familiarization and the familiar target is then paired with a novel target.
Recognition is indexed by a novelty score derived from the percentage of time looking at the novel stimulus vs. the familiar stimulus.
The Social-Novel Preference score refers to the proportion of time spent looking at novel stimuli out of all the time spent looking at both novel and familiar stimuli in the social test.
The Nonsocial-Novel Preference score refers to the proportion of time spent looking at novel stimuli out of all the time spent looking at both novel and familiar stimuli in the nonsocial test.The scores are given in proportions with a range from -1 to 1.
A score of -1 would mean the participant shows a preference for familiar stimuli and a score of 1 demonstrates a preference for novel stimuli.
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Baseline and Week 12
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Change in Gap-Overlap Task
Time Frame: Baseline and Week 12
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One of three computerized eye tracking tasks to measure attention.
three computer screens are set up side by side.
A stimulus initially appears on the central screen, and once the participant orients to that stimulus, another stimulus will appear on one of the lateral screens.
In the "gap" condition, the central stimulus will disappear before the peripheral stimulus appears.
In the "overlap" condition, the central stimulus will remain on the screen while the peripheral stimulus appears.
In both conditions, reaction times of the participant's eye movements (saccadic reaction time) from the central stimulus to the peripheral stimulus will be measured.
Gap Effect measures the difference between average Gap and Overlap saccade latencies.
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Baseline and Week 12
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Change in Flicker Tasks
Time Frame: Baseline and Week 12
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One of three computerized eye tracking tasks to measure attention.
The "flicker task," or the four-alternative forced-choice preferential looking paradigm - the time interval over which the visual system is able to parse information.
Scores range from -1 to 1 with higher scores indicating better (more typical) performance.
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Baseline and Week 12
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Change in Vineland Adaptive Behavior Scales
Time Frame: Baseline and Week 12
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Mean change in scale at week 12 as compared to baseline. Vineland Adaptive Behavior Communication Domain measures adaptive functioning. Vineland-II subdomains (Communication, Daily Living Skills, Socialization, Motor, Adaptive Behavior Composite, Internalizing, Externalizing and maladaptive) are V-scale scores (M=15, SD=3). Higher scores indicate better developed adaptive social behavior. Vineland-II domain and composite values are standard scores (M=100, SD=15). Higher scores indicate better developed adaptive social behavior. |
Baseline and Week 12
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Change in Repetitive Behavior Scale-Revised (RBS-R)
Time Frame: Baseline and Week 12
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Change in Repetitive Behavior Scale at week 12 as compared to baseline.
the RBS-R is a 44-item self-report questionnaire consisting of subscales and one additional global rating score from 1-100.
Score range for Stereotypic Behavior subscale is 0-27, Self-Injurious Behavior subscale is 0-24, Compulsive Behavior subscale is 0-18, Ritualistic/Sameness Behavior subscale is 0-36, and Restricted Interests subscale 0-9.
Total scale for RBS-R is 0-214, with higher score indicating more severe problem.
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Baseline and Week 12
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Change in Clinical Global Impression - Severity Scales
Time Frame: Baseline and Week 12
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Mean Change in Clinical Global Impression-Severity Scales at week 12 as compared to baseline.
Clinical Global Impressions (CGI) Rating Scales are commonly used to measure symptom severity and global improvement in treatment studies of patients with developmental disorders.
There Severity Scale (CGI-S) is a 7-point scale that requires the clinician to rate the severity of illness at the time of assessment.
Full scale from 1 - 7. Higher scores indicate greater symptom severity.
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Baseline and Week 12
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Change in Short Sensory Profile (SSP)
Time Frame: Baseline and Week 12
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Mean Change in Short Sensory Profile Scale at week 12 as compared to baseline, measuring sensory sensitivity and sensory seeking behavior.
The SSP is a 38-item caregiver questionnaire.
Items are based on a 5-point Liker scale ranging from 1=always to 5=never.
Tactile Sensitivity ranges from 7-35.
Taste/Smell Sensitivity ranges from 4-20.
Movement Sensitivity ranges from 3-15.
Underresponsive/Seeks Sensation ranges from 7-35.
Auditory Filtering ranges from 6-30.
Low Energy/Weak ranges from 6-30.
Visual/Auditory Sensitivity ranges from 5-25.
Total scale range from 38-190.
Lower scores indicate a higher probability of sensory processing abnormalities.
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Baseline and Week 12
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Change in Macarthur-Bates Communicative Development Inventory (MCDI)
Time Frame: Baseline and Week 12
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Macarthur-Bates Communicative Development Inventory at week 12 as compared to baseline, measuring language.
Words and Gestures Forms are for children ages 8-18 months.
In the form, the first part prompts parents to document the child's understanding of hundreds of early vocabulary items separated into semantic categories such as animal names, household items, and action words.
Parents mark the words understood or used, and the forms yield separate indexes of words understood and words produced.
The second part of each form asks parents to record the communicative and symbolic gestures the child has tried or completed.
Ranges for each subscale score are as follows: Phrases understood (0-28), Words understood (0-396), Words produced (0-396), Early gestures (0-18), Later gestures (0-45), Total gestures (0-63).
Higher scores indicate a great number of words, phrases, or gestures understood or produced.
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Baseline and Week 12
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Change in EEG Tasks: Auditory Habituation
Time Frame: Baseline and Week 12
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In the Auditory Habituation EEG task, participants listen to a series of 4 tones and the neural responses to each of these tones (event related potentials, ERPs ) are averaged.
The N1 and P2 components are typical responses to auditory stimuli.
The N1 response is the initial, quick response to hearing a stimulus, and P2 reflects the later processing of the stimulus.
Both of these should be greater in response to the first tone, and then reduce in response to each subsequent tone.
This is known as habituation, and is calculated as the change in Tone 1 minus Tone 2 response for both N1 and P2 components.
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Baseline and Week 12
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Number of Adverse Events
Time Frame: week 12
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Number of Adverse Events through week 12
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week 12
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Change in Caregiver Strain Index
Time Frame: Baseline and Week 12
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Mean Change Caregiver Strain Index at week 12 as compared to baseline.
The Caregiver Strain Questionnaire is a 21-item measure of self-reported strain experienced by caregivers and families of youth with emotional problems, with responses on a 5-point Likert scale (0 = Not at all, 4 = very much).
Full scale from 0 to 84, higher score indicates higher caregiver burden
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Baseline and Week 12
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Change in Mullen Scales of Early Learning (MSEL)
Time Frame: baseline and 12 weeks.
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Change in Mullen Scales of Early Learning (MSEL) at week 12 as compared to baseline.
The Mullen Scales results are reported using Age Equivalents, which provides an estimate of the chronological age (CA) in years and months at which a typically developing child demonstrates the skills displayed by the child being assessed.
The Mullen Scales results are reported using T scores.
(M = 100, SD = 15).
Each subscale is standardized to calculate an age-equivalent score.
Higher scores represent a higher CA, and therefore better outcome.
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baseline and 12 weeks.
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Collaborators and Investigators
Sponsor
Publications and helpful links
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- GCO 15-1223
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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