Trial · NCT01525901

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)

NCT01525901, Phase 2, Completed, Icahn School of Medicine at Mount Sinai; results first posted 2022-05-12

3 sourcestrials-2026-11-12-0.5.0

Cite this record

ConductScience Library. Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome). Trials, record NCT01525901. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT01525901

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Trial

As registered on ClinicalTrials.gov, in the graph's capture of the registry.

Title: Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
NCT number: NCT01525901
Status: Completed
Phases: Phase 2
Enrollment: 19 participants, actual
Lead sponsor: Icahn School of Medicine at Mount Sinai
Conditions: 22q13 Deletion Syndrome, Phelan-McDermid Syndrome
Interventions: Insulin-Like Growth Factor-1 (IGF-1), Normal saline
First posted: 2012-02-03
Last updated: 2022-05-12
Results first posted: 2022-05-12
Limitations and caveats: The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results.

Source ClinicalTrials.gov

Registered outcomes7

Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.

List	Outcome	Time frame	Description
Primary	Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Baseline and Week 12	16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes.
Primary	Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2	Baseline and Week 12	16 items on ABC-SW subscale, Each item is scored as 0 (never a problem), 1 (slight problem), 2 (moderately serious problem), or 3 (severe problem). Total score from 0 to 48 with higher score indicating poorer health outcomes..
Secondary	Change in Repetitive Behavior Scale - Study 2	Baseline and Week 12	Repetitive Behavior Scale (RBS) - Total Score 43 items, each item scored on 4-point scale: 0-Behavior does not occur, 1-Behavior occurs and is a mild problem, 2-Behavior occurs and is a moderate problem, 3-Behavior occurs and is a severe problem. with total score from 0 (mild) to 129 (severe). The subscales are stereotyped behaviors 6 items (subscale 0-18), self-injurious behaviors 8 items (subscale 0-24), Compulsive behaviors- 8 items (subscale 0-24), Ritualistic Behaviors 6 items (subscale from 0-18), Sameness 11 items (subscale 0-33), restricted behaviors 4 items (subscale 0-12). Total score is the sum of all items in the subscale with total score range from 0 to 129. Higher scores indicate greater symptom severity.
Secondary	Change in CGI-Improvement and Severity Scales; - Study 2	Baseline and Week 12	The Clinical Global Impression - Severity scale (CGI-S) is a 7-point scale that requires the clinician to rate the severity of the patient's illness at the time of assessment, relative to the clinician's past experience with patients who have the same diagnosis. Considering total clinical experience, a patient is assessed on severity of mental illness at the time of rating 1, normal, not at all ill; 2, borderline mentally ill; 3, mildly ill; 4, moderately ill; 5, markedly ill; 6, severely ill; or 7, extremely ill. The Clinical Global Impression - Improvement scale (CGI-I) is a 7 point scale that requires the clinician to assess how much the patient's illness has improved or worsened relative to a baseline state at the beginning of the intervention. and rated as: 1, very much improved; 2, much improved; 3, minimally improved; 4, no change; 5, minimally worse; 6, much worse; or 7, very much worse.
Secondary	Change in Caregiver Strain Questionnaire	Baseline and Week 12	21 question tool, about caregiver strain, where each question uses a Likert scale where 1 is "Not at all" and 5 is "Very much." The full scale ranges from 21-105, where higher scores indicate more severe strain.
Secondary	Change in Sensory Profile (SP) - Study 2	Baseline and Week 12	The SP is a standardized parent-completed questionnaire that assesses sensory processing and its impact on the functioning of children ages 3-10 yr. The 125 items represent behaviors that can be interpreted as responses to sensory experiences. The parent rates the observed frequency of these behaviors on a 5-point Likert scale (ranging from 1 always to 5 never). The tool consists of 14 sections, listed below, that refer to sensory processing, modulation, and behavioral and emotional responses. Subscale scores are listed below. Each section's raw score is compared with a threshold value to determine a category of performance: typical performance, probable difference (1 standard deviation below the mean), and definite difference (2 standard deviations below the mean). A lower raw score means a greater difference.
Secondary	Change in Short Sensory Profile (SSP) - Study 2	Baseline and 12 weeks	The Short Sensory Profile is a caregiver report measure consisting of 38 items, each scored on a 1-point (always) to 5-point (never) Likert scale. SSP Subscales Tactile Sensitivity (7 to 35) Taste/Smell Sensitivity (4 to 20), Movement Sensitivity (3 to 15), Under-Responsive/Seek Sensation (7 to 35) , Auditory Filtering (6 to 30), Low Energy/Weak (6 to 30), Visual/Auditory Sensitivity (5 to 25), with total scale from (38 to 190) Lower scores indicate more sensory alterations.

Source ClinicalTrials.gov

Outcomes7

Each outcome the trial posted results for, in ClinicalTrials.gov's words.

Type	Outcome	Time frame	Population	Units	Measured as
PRIMARY	Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Baseline and Week 12		score on a scale	MEAN
PRIMARY	Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2	Baseline and Week 12		score on a scale	MEAN
SECONDARY	Change in Repetitive Behavior Scale - Study 2	Baseline and Week 12	Participants in Study 2	score on a scale	MEAN
SECONDARY	Change in CGI-Improvement and Severity Scales; - Study 2	Baseline and Week 12		score on a scale	MEAN
SECONDARY	Change in Caregiver Strain Questionnaire	Baseline and Week 12	4 participants missing data from at least one data point	score on a scale	MEAN
SECONDARY	Change in Sensory Profile (SP) - Study 2	Baseline and Week 12		units on a scale	MEAN
SECONDARY	Change in Short Sensory Profile (SSP) - Study 2	Baseline and 12 weeks		score on a scale	MEAN

Source ClinicalTrials.gov

Results by group74

Each measurement the trial posted, group by group, in the words and numbers it posted.

Outcome	Group	Category	Value	Spread	Units
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Study 1: Insulin-Like Growth Factor-1 (IGF-1)	Baseline	15.78	Standard Error 9.16	score on a scale
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Study 1: Normal Saline	Baseline	11.22	Standard Error 7.29	score on a scale
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Study 1: Insulin-Like Growth Factor-1 (IGF-1)	Week 12	7.61	Standard Error 5.71	score on a scale
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1	Study 1: Normal Saline	Week 12	9.70	Standard Error 8.07	score on a scale
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2	Study 2: IGF-1		-5.5	Standard Deviation 7.46	score on a scale
Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale Study 2	Study 2: Placebo		-6.3	Standard Deviation 5.38	score on a scale
Change in Repetitive Behavior Scale - Study 2	Study 2: IGF-1	RBS-Stereotyped Behavior	-0.3	Standard Deviation 2.63	score on a scale
Change in Repetitive Behavior Scale - Study 2	Study 2: Placebo	RBS-Stereotyped Behavior	-0.8	Standard Deviation 2.19	score on a scale
Change in Repetitive Behavior Scale - Study 2	Study 2: IGF-1	RBS-Self-Injurious Behavior	-0.3	Standard Deviation 1.64	score on a scale
Change in Repetitive Behavior Scale - Study 2	Study 2: Placebo	RBS-Self-Injurious Behavior	0.2	Standard Deviation 1.14	score on a scale

1 to 10 of 74Source ClinicalTrials.gov

See all 74 results by group

Participant flow36

How many started, completed or left each group, period by period.

Period	Milestone	Group	Participants
Period 1: 12 Weeks	STARTED	Study 1: Insulin-Like Growth Factor-1 (IGF-1) Then Normal Saline	5
Period 1: 12 Weeks	STARTED	Study 1: Normal Saline Then IGF-1	4
Period 1: 12 Weeks	STARTED	Study 2: Insulin-Like Growth Factor-1 (IGF-1) Then Normal Saline	5
Period 1: 12 Weeks	STARTED	Study 2: Normal Saline Then IGF-1	5
Period 1: 12 Weeks	COMPLETED	Study 1: Insulin-Like Growth Factor-1 (IGF-1) Then Normal Saline	5
Period 1: 12 Weeks	COMPLETED	Study 1: Normal Saline Then IGF-1	4
Period 1: 12 Weeks	COMPLETED	Study 2: Insulin-Like Growth Factor-1 (IGF-1) Then Normal Saline	5
Period 1: 12 Weeks	COMPLETED	Study 2: Normal Saline Then IGF-1	5
Period 1: 12 Weeks	NOT COMPLETED	Study 1: Insulin-Like Growth Factor-1 (IGF-1) Then Normal Saline	0
Period 1: 12 Weeks	NOT COMPLETED	Study 1: Normal Saline Then IGF-1	0

1 to 10 of 36Source ClinicalTrials.gov

See all 36 participant flow

Adverse events100

Each adverse event the trial posted, group by group: the participants affected out of those at risk.

Type	Event	Organ system	Group	Affected	At risk
other	Constipation	Gastrointestinal disorders	Insulin-Like Growth Factor-1 (IGF-1)	7	19
other	Constipation	Gastrointestinal disorders	Normal Saline	4	19
other	Sedation	Nervous system disorders	Insulin-Like Growth Factor-1 (IGF-1)	1	19
other	Sedation	Nervous system disorders	Normal Saline	0	19
other	Decreased appetite	Metabolism and nutrition disorders	Insulin-Like Growth Factor-1 (IGF-1)	4	19
other	Decreased appetite	Metabolism and nutrition disorders	Normal Saline	5	19
other	Periobital/facial swelling	Skin and subcutaneous tissue disorders	Insulin-Like Growth Factor-1 (IGF-1)	1	19
other	Periobital/facial swelling	Skin and subcutaneous tissue disorders	Normal Saline	0	19
other	Diarrhea	Gastrointestinal disorders	Insulin-Like Growth Factor-1 (IGF-1)	2	19
other	Diarrhea	Gastrointestinal disorders	Normal Saline	5	19

1 to 10 of 100Source ClinicalTrials.gov

See all 100 adverse events

Adverse event totals6

The totals the trial posted for each group.

Total	Group	Affected	At risk
Total, all-cause mortality	Insulin-Like Growth Factor-1 (IGF-1)	0	19
Total, all-cause mortality	Normal Saline	0	19
Total, other adverse events	Insulin-Like Growth Factor-1 (IGF-1)	19	19
Total, other adverse events	Normal Saline	19	19
Total, serious adverse events	Insulin-Like Growth Factor-1 (IGF-1)	0	19
Total, serious adverse events	Normal Saline	0	19

Source ClinicalTrials.gov

Papers2

The papers the trial lists on ClinicalTrials.gov.

PMID	Listed as	Source
25685306	RESULT	PubMed
35395866	DERIVED	PubMed

Grants1

The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.

Project	Title	Principal investigators	Organization	Funder	Fiscal years
R34MH100276	Piloting Treatment with Insulin-Like Growth Factor-1 in Phelan-McDermid Syndrome	KOLEVZON, ALEXANDER	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	NATIONAL INSTITUTE OF MENTAL HEALTH	2013 to 2015

Source NIH RePORTER

Trial comparisons2

Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.

Comparison	Source
Insulin-Like Growth Factor-1 (IGF-1) vs Normal Saline: deaths from any cause	Trial comparisons
Insulin-Like Growth Factor-1 (IGF-1) vs Normal Saline: serious adverse events	Trial comparisons

Tests0

The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.

None in this release.

Data dates

The day each source was copied for this release.

ClinicalTrials.gov: 2026-11-12; ClinicalTrials.gov
Results, from AACT: 2026-03-23; AACT
NIH grant links: 2026-11-13; NIH RePORTER

Sources 3

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ClinicalTrials.govNo license stated
NIH RePORTER's clinical studies and project filesPublic domain

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ClinicalTrials.govnone stated
NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this trial from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/trials/v1/NCT01525901

GET https://conductscience.org/api/trials/v1/NCT01525901/results?page=2

API reference For AI assistants