Phase 2
N=6
Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Phelan McDermid Syndrome
Bottom Line
View on ClinicalTrials.gov: NCT04003207 ↗Enrolled (actual)
6
Serious AEs
0.0%
Results posted
May 2024
Primary outcome: Primary: ABC - Social Withdrawal Subscale — 10.31; 4.6; 14.8; 6.2 score on a scale
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Recombinant human Growth hormone (Drug)
- Age
- Pediatric · 2+ yrs
- Sex
- All
- Sponsor
- Swathi Sethuram
- Primary completion
- Jun 2020
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY ABC - Social Withdrawal Subscale |
10.31; 4.6; 14.8; 6.2; 8.8; 5.1 | — |
| PRIMARY Repetitive Behavior Scale-Revised (RBS-R) |
4.3; 4.0; 0.7; 1.3; 2.8; 1.3 | — |
| PRIMARY The Sensory Profile |
31.5; 31.7; 18.2; 19.4; 13.3; 13.7 | — |
| PRIMARY The Sensory Assessment for Neurodevelopmental Disorders (SAND) |
— | — |
| SECONDARY Visual Evoked Potentials (VEP) |
— | — |
| SECONDARY Change in Auditory Event Related Potentials (AERP) |
— | — |
Summary
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.
Eligibility Criteria
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
Data sourced from ClinicalTrials.gov (NCT04003207). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.