Trial Outcomes & Findings for Growth Hormone Treatment in Children With Phelan McDermid Syndrome (NCT NCT04003207)
NCT ID: NCT04003207
Last Updated: 2024-05-02
Results Overview
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.
COMPLETED
PHASE2
6 participants
After 12 weeks of growth hormone therapy
2024-05-02
Participant Flow
Participant milestones
| Measure |
Phelan-McDermid Syndrome
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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Overall Study
STARTED
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6
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Overall Study
COMPLETED
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5
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Overall Study
NOT COMPLETED
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1
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Reasons for withdrawal
| Measure |
Phelan-McDermid Syndrome
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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Overall Study
Protocol Violation
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1
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Baseline Characteristics
Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Baseline characteristics by cohort
| Measure |
Phelan-McDermid Syndrome
n=6 Participants
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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Age, Continuous
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7.5 years
STANDARD_DEVIATION 3.2 • n=5 Participants
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Sex: Female, Male
Female
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4 Participants
n=5 Participants
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Sex: Female, Male
Male
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2 Participants
n=5 Participants
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Ethnicity (NIH/OMB)
Hispanic or Latino
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0 Participants
n=5 Participants
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Ethnicity (NIH/OMB)
Not Hispanic or Latino
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6 Participants
n=5 Participants
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Ethnicity (NIH/OMB)
Unknown or Not Reported
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0 Participants
n=5 Participants
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Race (NIH/OMB)
American Indian or Alaska Native
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0 Participants
n=5 Participants
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Race (NIH/OMB)
Asian
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2 Participants
n=5 Participants
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Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
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0 Participants
n=5 Participants
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Race (NIH/OMB)
Black or African American
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0 Participants
n=5 Participants
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Race (NIH/OMB)
White
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4 Participants
n=5 Participants
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Race (NIH/OMB)
More than one race
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0 Participants
n=5 Participants
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Race (NIH/OMB)
Unknown or Not Reported
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0 Participants
n=5 Participants
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PRIMARY outcome
Timeframe: After 12 weeks of growth hormone therapyA 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.
Outcome measures
| Measure |
Phelan-McDermid Syndrome
n=6 Participants
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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ABC - Social Withdrawal Subscale
Irritability baseline
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10.31 score on a scale
Standard Deviation 7.6
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ABC - Social Withdrawal Subscale
Irritability 12 weeks
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4.6 score on a scale
Standard Deviation 2.3
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ABC - Social Withdrawal Subscale
Social Withdrawal baseline
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14.8 score on a scale
Standard Deviation 7.4
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ABC - Social Withdrawal Subscale
Social Withdrawal 12 weeks
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6.2 score on a scale
Standard Deviation 3.4
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ABC - Social Withdrawal Subscale
Stereotypy baseline
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8.8 score on a scale
Standard Deviation 6.9
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ABC - Social Withdrawal Subscale
Stereotypy 12 weeks
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5.1 score on a scale
Standard Deviation 1.8
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ABC - Social Withdrawal Subscale
Hyperactivity baseline
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33.3 score on a scale
Standard Deviation 6.2
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ABC - Social Withdrawal Subscale
Hyperactivity 12 weeks
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16.5 score on a scale
Standard Deviation 7.7
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ABC - Social Withdrawal Subscale
Inappropriate Speech baseline
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3.3 score on a scale
Standard Deviation 4.3
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ABC - Social Withdrawal Subscale
Inappropriate Speech 12 weeks
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2.3 score on a scale
Standard Deviation 3.8
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PRIMARY outcome
Timeframe: After 12 weeks of growth hormone therapyA 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)
Outcome measures
| Measure |
Phelan-McDermid Syndrome
n=6 Participants
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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Repetitive Behavior Scale-Revised (RBS-R)
Stereotyped Behavior at baseline
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4.3 score on a scale
Standard Deviation 1.7
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Repetitive Behavior Scale-Revised (RBS-R)
Stereotyped Behavior at Week 12
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4.0 score on a scale
Standard Deviation 2.4
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Repetitive Behavior Scale-Revised (RBS-R)
Self-injurious Behavior at baseline
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0.7 score on a scale
Standard Deviation 0.8
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Repetitive Behavior Scale-Revised (RBS-R)
Self-injurious Behavior at Week 12
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1.3 score on a scale
Standard Deviation 1.8
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Repetitive Behavior Scale-Revised (RBS-R)
Compulsive Behavior at baseline
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2.8 score on a scale
Standard Deviation 3.2
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Repetitive Behavior Scale-Revised (RBS-R)
Compulsive Behavior at Week 12
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1.3 score on a scale
Standard Deviation 1.6
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Repetitive Behavior Scale-Revised (RBS-R)
Ritualistic Behavior at baseline
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1.2 score on a scale
Standard Deviation 1.2
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Repetitive Behavior Scale-Revised (RBS-R)
Ritualistic Behavior at Week 12
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0.8 score on a scale
Standard Deviation 1.2
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Repetitive Behavior Scale-Revised (RBS-R)
Sameness Behavior at baseline
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2.3 score on a scale
Standard Deviation 2.4
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Repetitive Behavior Scale-Revised (RBS-R)
Sameness Behavior at Week 12
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2.0 score on a scale
Standard Deviation 1.7
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Repetitive Behavior Scale-Revised (RBS-R)
Restricted Behavior at baseline
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2.0 score on a scale
Standard Deviation 2.2
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Repetitive Behavior Scale-Revised (RBS-R)
Restricted Behavior at Week 12
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1.2 score on a scale
Standard Deviation 1.5
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Repetitive Behavior Scale-Revised (RBS-R)
Total at baseline
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13.3 score on a scale
Standard Deviation 6.1
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Repetitive Behavior Scale-Revised (RBS-R)
Total at Week 12
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10.7 score on a scale
Standard Deviation 3.1
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PRIMARY outcome
Timeframe: After 12 weeks of growth hormone therapyThe 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)
Outcome measures
| Measure |
Phelan-McDermid Syndrome
n=6 Participants
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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The Sensory Profile
Sensation at Week 12
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20.0 score on a scale
Standard Deviation 3.8
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The Sensory Profile
Auditory at Baseline
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20.0 score on a scale
Standard Deviation 1.9
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The Sensory Profile
Low Energy / Weak at Baseline
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16.5 score on a scale
Standard Deviation 6.9
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The Sensory Profile
Low Energy / Weak at Week 12
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20.5 score on a scale
Standard Deviation 5.2
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The Sensory Profile
Tactile at Baseline
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31.5 score on a scale
Standard Deviation 2.1
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The Sensory Profile
Tactile at Week 12
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31.7 score on a scale
Standard Deviation 2.0
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The Sensory Profile
Taste / Smell at Baseline
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18.2 score on a scale
Standard Deviation 3.6
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The Sensory Profile
Taste / Smell at Week 12
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19.4 score on a scale
Standard Deviation 1.3
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The Sensory Profile
Movement at Baseline
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13.3 score on a scale
Standard Deviation 1.6
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The Sensory Profile
Movement at Week 12
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13.7 score on a scale
Standard Deviation 1.8
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The Sensory Profile
Sensation at Baseline
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17.5 score on a scale
Standard Deviation 4.8
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The Sensory Profile
Auditory at Week 12
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22.0 score on a scale
Standard Deviation 2.4
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The Sensory Profile
Visual / Auditory at Baseline
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22.3 score on a scale
Standard Deviation 2.3
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The Sensory Profile
Visual / Auditory at Week 12
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22.7 score on a scale
Standard Deviation 1.5
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The Sensory Profile
Total at Baseline
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139.3 score on a scale
Standard Deviation 12.7
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The Sensory Profile
Total at Week 12
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148.8 score on a scale
Standard Deviation 12.8
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PRIMARY outcome
Timeframe: After 12 weeks of growth hormone therapyPopulation: Data not collected due to pandemic.
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.
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: After 12 weeks of growth hormone therapyPopulation: Data not collected due to pandemic.
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.
Outcome measures
Outcome data not reported
SECONDARY outcome
Timeframe: Baseline and 12 weeks of growth hormone therapyPopulation: Data not collected due to pandemic.
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.
Outcome measures
Outcome data not reported
Adverse Events
Phelan-McDermid Syndrome
Serious adverse events
Adverse event data not reported
Other adverse events
| Measure |
Phelan-McDermid Syndrome
n=6 participants at risk
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Recombinant human Growth hormone: Subcutaneous growth hormone injections given once daily at a dose between 0.15mg/kg/week to 0.47 mg/kg/week titrated based on IGF-1 levels in serum for a duration of 12 weeks.
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Gastrointestinal disorders
Increase in appetite
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50.0%
3/6 • 12 weeks
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Gastrointestinal disorders
Gastroenteritis
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50.0%
3/6 • 12 weeks
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Renal and urinary disorders
Polyuria/nocturia
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50.0%
3/6 • 12 weeks
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Psychiatric disorders
Crying spells
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50.0%
3/6 • 12 weeks
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General disorders
Runny nose/cough/sneezing
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50.0%
3/6 • 12 weeks
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Gastrointestinal disorders
Decrease in appetite
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33.3%
2/6 • 12 weeks
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Infections and infestations
Fever
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33.3%
2/6 • 12 weeks
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Psychiatric disorders
Worsening repetitive behavior
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33.3%
2/6 • 12 weeks
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Infections and infestations
Eye/ear infection
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33.3%
2/6 • 12 weeks
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Gastrointestinal disorders
Diarrhea
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16.7%
1/6 • 12 weeks
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General disorders
Worsening hyperactivity
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16.7%
1/6 • 12 weeks
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Psychiatric disorders
Sleep disturbance
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16.7%
1/6 • 12 weeks
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Psychiatric disorders
Disruptive behavior
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16.7%
1/6 • 12 weeks
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Skin and subcutaneous tissue disorders
Bruising at injection site
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16.7%
1/6 • 12 weeks
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General disorders
Sweating of hands/feet
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16.7%
1/6 • 12 weeks
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Musculoskeletal and connective tissue disorders
Limping/gait changes
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16.7%
1/6 • 12 weeks
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Additional Information
Alexander Kolevzon, MD
Icahn School of Medicine at Mount Sinai
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place
Restriction type: GT60