Trial · NCT04003207

Growth Hormone Treatment in Children With Phelan McDermid Syndrome

NCT04003207, Phase 2, Completed, Swathi Sethuram; results first posted 2024-05-02

3 sourcestrials-2026-11-12-0.5.0

Cite this record

ConductScience Library. Growth Hormone Treatment in Children With Phelan McDermid Syndrome. Trials, record NCT04003207. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT04003207

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Trial

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

Title: Growth Hormone Treatment in Children With Phelan McDermid Syndrome
NCT number: NCT04003207
Status: Completed
Phases: Phase 2
Enrollment: 6 participants, actual
Lead sponsor: Swathi Sethuram
Conditions: Phelan McDermid Syndrome
Interventions: Recombinant human Growth hormone
First posted: 2019-07-01
Last updated: 2024-05-02
Results first posted: 2024-05-02

Source ClinicalTrials.gov

Registered outcomes6

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

List	Outcome	Time frame	Description
Primary	ABC - Social Withdrawal Subscale	After 12 weeks of growth hormone therapy	A caregiver report symptom checklist. 58-item instrument into 5 subscales: Irritability (score 0-45); Lethargy/Social Withdrawal (score 0-48); Stereotypic Behavior (score 0-21); Hyperactivity (score 0-48); Inappropriate Speech (score 0-12). Total scale 0-174, with higher score indicating more aberrant behavior.
Primary	Repetitive Behavior Scale-Revised (RBS-R)	After 12 weeks of growth hormone therapy	A 43 item instrument with total score from 0-129, with higher score indicating more restricted, repetitive and stereotyped behaviors. Subscales Stereotyped Behavior (0-27) Self-injurious Behavior (0-24) Compulsive Behavior (0-18) Ritualistic Behavior (0-36) Sameness Behavior (0-33) Restricted Behavior (0-12)
Primary	The Sensory Profile	After 12 weeks of growth hormone therapy	The full Sensory Profile has 125 items and the short version contains 38 items. Parents use a Likert scale to rate how frequently their child demonstrates a particular behavior (ranging from 1 = always to 5 = never). Total scale for the Short Sensory Profile 38-190, with a lower score indicates greater deviation from typically developing children and indicates more sensory reactivity symptoms. Subscales Tactile (7-35) Taste / Smell (4-20) Movement (3-15) Sensation (7-35) Auditory (6-30) Low Energy / Weak (6-30) Visual / Auditory (5-25)
Primary	The Sensory Assessment for Neurodevelopmental Disorders (SAND)	After 12 weeks of growth hormone therapy	a clinician-administered assessment and corresponding caregiver interview that is not dependent on verbal or cognitive ability and is therefore appropriate for severely affected or nonverbal individuals with PMS. Responses are rated by a trained examiner on an algorithm. Scores are dichotomous, 0 (not present) or 1 (present) and are based on a summary of observed sensory behaviors throughout the duration of the observation. A total SAND score ranging from 0 to 90. Higher scores represent a higher level of sensory reactivity symptoms.
Secondary	Visual Evoked Potentials (VEP)	After 12 weeks of growth hormone therapy	A noninvasive technique to evaluate the functional integrity of visual pathways in the brain from the retina to the visual cortex via the optic nerve/optic radiations. The VEP is recorded from the head's surface, over the visual cortex, and is extracted from ongoing EEG through signal averaging. VEPs reflect the sum of excitatory and inhibitory postsynaptic potentials occurring on apical dendrites (Zemon et al., 1986) which modulate excitatory and inhibitory signals received by the pyramidal cells.
Secondary	Change in Auditory Event Related Potentials (AERP)	Baseline and 12 weeks of growth hormone therapy	AERP is useful for characterizing early processing of auditory tones and habituation to rapidly repeated stimuli as in speech processing. AERP amplitudes are measured at 12 weeks and compared to baseline.

Source ClinicalTrials.gov

Outcomes6

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

Type	Outcome	Time frame	Population	Units	Measured as
PRIMARY	ABC - Social Withdrawal Subscale	After 12 weeks of growth hormone therapy		score on a scale	MEAN
PRIMARY	Repetitive Behavior Scale-Revised (RBS-R)	After 12 weeks of growth hormone therapy		score on a scale	MEAN
PRIMARY	The Sensory Profile	After 12 weeks of growth hormone therapy		score on a scale	MEAN
PRIMARY	The Sensory Assessment for Neurodevelopmental Disorders (SAND)	After 12 weeks of growth hormone therapy	Data not collected due to pandemic.
SECONDARY	Visual Evoked Potentials (VEP)	After 12 weeks of growth hormone therapy	Data not collected due to pandemic.
SECONDARY	Change in Auditory Event Related Potentials (AERP)	Baseline and 12 weeks of growth hormone therapy	Data not collected due to pandemic.

Source ClinicalTrials.gov

Results by group40

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

Outcome	Group	Category	Value	Spread	Units
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Irritability baseline	10.31	Standard Deviation 7.6	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Irritability 12 weeks	4.6	Standard Deviation 2.3	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Social Withdrawal baseline	14.8	Standard Deviation 7.4	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Social Withdrawal 12 weeks	6.2	Standard Deviation 3.4	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Stereotypy baseline	8.8	Standard Deviation 6.9	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Stereotypy 12 weeks	5.1	Standard Deviation 1.8	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Hyperactivity baseline	33.3	Standard Deviation 6.2	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Hyperactivity 12 weeks	16.5	Standard Deviation 7.7	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Inappropriate Speech baseline	3.3	Standard Deviation 4.3	score on a scale
ABC - Social Withdrawal Subscale	Phelan-McDermid Syndrome	Inappropriate Speech 12 weeks	2.3	Standard Deviation 3.8	score on a scale

1 to 10 of 40Source ClinicalTrials.gov

See all 40 results by group

Participant flow3

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

Period	Milestone	Group	Participants
Overall Study	STARTED	Phelan-McDermid Syndrome	6
Overall Study	COMPLETED	Phelan-McDermid Syndrome	5
Overall Study	NOT COMPLETED	Phelan-McDermid Syndrome	1

Source ClinicalTrials.gov

Adverse events16

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	Increase in appetite	Gastrointestinal disorders	Phelan-McDermid Syndrome	3	6
other	Gastroenteritis	Gastrointestinal disorders	Phelan-McDermid Syndrome	3	6
other	Polyuria/nocturia	Renal and urinary disorders	Phelan-McDermid Syndrome	3	6
other	Crying spells	Psychiatric disorders	Phelan-McDermid Syndrome	3	6
other	Runny nose/cough/sneezing	General disorders	Phelan-McDermid Syndrome	3	6
other	Decrease in appetite	Gastrointestinal disorders	Phelan-McDermid Syndrome	2	6
other	Fever	Infections and infestations	Phelan-McDermid Syndrome	2	6
other	Worsening repetitive behavior	Psychiatric disorders	Phelan-McDermid Syndrome	2	6
other	Eye/ear infection	Infections and infestations	Phelan-McDermid Syndrome	2	6
other	Diarrhea	Gastrointestinal disorders	Phelan-McDermid Syndrome	1	6

1 to 10 of 16Source ClinicalTrials.gov

See all 16 adverse events

Adverse event totals3

The totals the trial posted for each group.

Total	Group	Affected	At risk
Total, all-cause mortality	Phelan-McDermid Syndrome	0	6
Total, other adverse events	Phelan-McDermid Syndrome	6	6
Total, serious adverse events	Phelan-McDermid Syndrome	0	6

Source ClinicalTrials.gov

Papers6

The papers the trial lists on ClinicalTrials.gov.

PMID	Listed as	Source
24837495	BACKGROUND	PubMed
25685306	BACKGROUND	PubMed
26780584	BACKGROUND	PubMed
27884013	BACKGROUND	PubMed
29719671	BACKGROUND	PubMed
35093163	DERIVED	PubMed

Grants0

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.

None in this release.

Trial comparisons0

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

None in this release.

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.

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