Primary outcomeMean· After 12 weeks of growth hormone therapy
ABC - Social Withdrawal Subscale
| Group | Value (score on a scale) | Spread |
|---|---|---|
| Phelan-McDermid Syndrome | 10.31 | 7.6 |
Trial · Interventional
CompletedPhase 2Results postedRegistry dataGrowth Hormone Treatment in Children With Phelan McDermid Syndrome
NCTNCT04003207 (opens ClinicalTrials.gov in a new tab)Other idGCO 18-2549
This trial does not test a peptide that PepBank tracks.
- Measures IGF-1 (mecasermin), does not give it. It appears in the eligibility rules.
Overview
- Status
- Completed
- Phase
- Phase 2
- Enrollment
- 6 participants (actual)
- Sponsor
- Swathi Sethuram · Other
- Design
- Allocation not applicable · Open label (no masking)
- Countries
1 country
United States
- Start
- 13 Sept 2019
- Primary completion
- 5 Jun 2020
- Completion
- 5 Jun 2020
- First posted
- 1 Jul 2019
- Last update posted
- 2 May 2024
- Conditions
- Phelan McDermid Syndrome
Timeline
1 trial · 1 completed · 1 with posted results
- Completed
- Ongoing
- Not yet recruiting
- Stopped
- Estimated dates (est.)
- Results posted
201920202021
- Ph 2
Growth Hormone Treatment in Children With Phelan McDermid Syndrome
NCT0400320713 Sept 2019 to 5 Jun 2020
Registry summary
Text and fields below are the sponsor's entries at ClinicalTrials.gov, shown as posted.
Phelan McDermid syndrome (PMS) is a rare genetic form of autism spectrum disorder (ASD) due to deletions or mutations in the SHANK3 gene. This is a pilot open labeled trial of growth hormone therapy in children with PMS targeting social withdrawal and repetitive behavior. This research study will include children with PMS between 2-12 years of age who will receive growth hormone daily for 12 weeks, if found to be eligible. The aim of this study is to evaluate the effect of growth hormone on behavioral outcomes such as the aberrant behavior checklist social withdrawal subscale (ABC-SW) and repetitive behavior scale- revised (RBS-R). The effects of growth hormone on visual evoked potentials will also be assessed. Growth hormone increases insulin like growth factor 1 (IGF-1) levels and a previous trial of IGF-1 therapy in PMS children showed improvement in these behavioral scales. Growth hormone has been studied for decades with an excellent safety profile and fewer adverse effects compared to IGF-1 therapy in other conditions. Hence, this may be a viable therapeutic option. There is no treatment currently available for PMS and this trial is therefore extremely important.
Interventions
- Recombinant human Growth hormoneDrug
Arms1
Experimental
Phelan-McDermid syndrome
Patients with Phelan-McDermid syndrome receive 12 weeks of growth hormone therapy
Primary outcomes4
Outcomes the sponsor listed as primary.
ABC - Social Withdrawal Subscale
Time frame · After 12 weeks of growth hormone therapy
Registry description
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.
Repetitive Behavior Scale-Revised (RBS-R)
Time frame · After 12 weeks of growth hormone therapy
Registry description
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)
The Sensory Profile
Time frame · After 12 weeks of growth hormone therapy
Registry description
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)
The Sensory Assessment for Neurodevelopmental Disorders (SAND)
Time frame · After 12 weeks of growth hormone therapy
Registry description
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 outcomes(2)
Visual Evoked Potentials (VEP)
Time frame · After 12 weeks of growth hormone therapy
Registry description
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.
Change in Auditory Event Related Potentials (AERP)
Time frame · Baseline and 12 weeks of growth hormone therapy
Registry description
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.
Posted results
Values are shown as posted at ClinicalTrials.gov, with their units. PepBank has not converted, pooled or compared them.
Primary outcome results
Primary outcomeMean· After 12 weeks of growth hormone therapy
Repetitive Behavior Scale-Revised (RBS-R)
| Group | Value (score on a scale) | Spread |
|---|---|---|
| Phelan-McDermid Syndrome | 4.3 | 1.7 |
Primary outcomeMean· After 12 weeks of growth hormone therapy
The Sensory Profile
| Group | Value (score on a scale) | Spread |
|---|---|---|
| Phelan-McDermid Syndrome | 31.5 | 2.1 |
Primary outcome· After 12 weeks of growth hormone therapy
The Sensory Assessment for Neurodevelopmental Disorders (SAND)
| Group | Value |
|---|---|
| Phelan-McDermid Syndrome | not posted |
Secondary and other outcome results(2)
Secondary outcome· After 12 weeks of growth hormone therapy
Visual Evoked Potentials (VEP)
| Group | Value |
|---|---|
| Phelan-McDermid Syndrome | not posted |
Secondary outcome· Baseline and 12 weeks of growth hormone therapy
Change in Auditory Event Related Potentials (AERP)
| Group | Value |
|---|---|
| Phelan-McDermid Syndrome | not posted |
Adverse events, as posted
| Group | Deaths | Serious events | Other events |
|---|---|---|---|
| Phelan-McDermid SyndromePatients 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. | 0 / 6 | 0 / 6 | 6 / 6 |
Each cell reads participants affected / participants at risk, as the registry posted them.
Registry data comes from ClinicalTrials.gov. Study results come from studies, not from the registry. How PepBank works
Studies1
Studies that cite this trial.
More studies
1 study on this page
PubMed tag: none · 2016
Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.
Grimberg et al. 2016Hormone research in paediatricscited by 508
PMID 27884013DOI 10.1159/000452150PUB-27884013
Rights unknown
Other registry references
References listed at the registry that are not in PepBank. They link to PubMed.
- DerivedSethuram S, Levy T, Foss-Feig J, Halpern D, Sandin S, Siper PM, Walker H, Buxbaum JD, Rapaport R, Kolevzon A. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Mol Autism. 2022 Jan 29;13(1):6. doi: 10.1186/s13229-022-00485-7. PMID 35093163
Eligibility
Who could join, as posted.
- Sex
- All
- Age
- from 2 Years up to 12 Years
- Healthy volunteers
- Not accepted
Inclusion and exclusion criteria, as posted
Inclusion Criteria:
* Known pathogenic deletions or mutations in SHANK3 gene diagnosed by array CGH and/or direct sequencing.
* Children between 2 and 12 years of age.
* Open epiphyses on bone age x ray
Exclusion Criteria:
* closed epiphyses;
* active or suspected neoplasia;
* intracranial hypertension;
* hepatic insufficiency;
* renal insufficiency;
* cardiomegaly/valvulopathy;
* history of allergy to growth hormone or any component of the formulation (mecasermin);
* history of extreme prematurity (\<1000 grams) with associated early neo-natal complications, e.g. intra-cerebral
* hemorrhage, prolonged hypoxia, prolonged hypoglycemia;
* patients with comorbid conditions who are deemed too medically compromised to tolerate the risk of experimental treatment with growth hormone.
* Patient with visual problems that preclude the use of VEP's
PepBank is a research reference. Talk to a doctor before you use any peptide.