Growth Hormone Pilot Trial Targets Social Withdrawal, Repetitive Behaviors in Phelan McDermid Syndrome
Background
Phelan McDermid Syndrome (PMS) is a rare genetic form of autism spectrum disorder (ASD), primarily caused by deletions or mutations in the SHANK3 gene. Currently, there are no approved treatments for PMS, leaving a significant unmet medical need for interventions targeting its core behavioral symptoms like social withdrawal and repetitive behaviors. Growth Hormone (GH) is being investigated due to its ability to increase insulin-like growth factor 1 (IGF-1) levels, a pathway previously shown to improve behavioral scales in PMS children. Furthermore, GH boasts an excellent safety profile, potentially offering a safer alternative to direct IGF-1 therapy.
Study Design
This pilot, open-label clinical trial is designed to assess the effects of Growth Hormone therapy in children aged 2-12 years with Phelan McDermid Syndrome. Eligible participants will receive Growth Hormone daily for 12 weeks. The primary endpoints for this study include evaluating behavioral outcomes using the Aberrant Behavior Checklist Social Withdrawal Subscale (ABC-SW) and the Repetitive Behavior Scale-Revised (RBS-R). Additionally, the study will assess the effects of Growth Hormone on visual evoked potentials to explore neurological impacts.
Results
This abstract describes the protocol and aims of an ongoing or planned pilot clinical trial and does not present any findings or results. The study's primary objective is to evaluate the effect of Growth Hormone on behavioral outcomes and visual evoked potentials in children with Phelan McDermid Syndrome. Specific data, statistical analyses, or observed changes in ABC-SW scores, RBS-R scores, or IGF-1 levels are not yet available from this abstract.
Key Findings
- Pilot trial aims to evaluate Growth Hormone's effect on social withdrawal in PMS children.
- Study will assess Growth Hormone's impact on repetitive behaviors using
RBS-R. - Trial will also investigate Growth Hormone's effects on
visual evoked potentials. - Growth Hormone therapy is administered daily for 12 weeks in children aged 2-12 years with PMS.
Why It Matters
If successful, this pilot trial could establish Growth Hormone as a viable therapeutic option for children with Phelan McDermid Syndrome, addressing a critical gap in treatment for this rare genetic form of ASD. Given Growth Hormone's established excellent safety profile and fewer adverse effects compared to direct IGF-1 therapy, it could offer a more tolerable and accessible intervention. This research is crucial for developing the first targeted treatment for PMS, potentially improving core behavioral symptoms like social withdrawal and repetitive behaviors, and offering hope to affected families. The daily administration for 12 weeks suggests a clear, albeit preliminary, protocol if efficacy is confirmed.
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phelan-mc-dermid-syndrome
autism-spectrum-disorder
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