Growth Hormone Treatment in Children With Phelan McDermid Syndrome
Status:
Completed
Trial end date:
2020-06-05
Target enrollment:
Participant gender:
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.
Phase:
Phase 2
Details
Lead Sponsor:
Icahn School of Medicine at Mount Sinai Swathi Sethuram