NCT05187377

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Electrophysiological Markers for Interventions in Phelan-McDermid Syndrome and Idiopathic Autism

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 32 (actual)
• Sponsor: Icahn School of Medicine at Mount Sinai · Academic / Other
• Sex: All
• Age: 2 Years – 12 Years
• Healthy volunteers: Not accepted

Summary

This clinical trial will use growth hormone as a novel treatment for Phelan-McDermid syndrome (PMS) and idiopathic autism. A double-blind, placebo-controlled crossover trial design will be used in 30 children with idiopathic autism and 15 children with PMS to evaluate the the effects of growth hormone on visual evoked potentials (VEPs), socialization, language, and repetitive behaviors. The researchers expect to provide evidence for the feasibility of using VEPs in PMS, and to show support for growth hormone in ameliorating clinical symptoms of ASD.

Detailed description

This study will show that select electrophysiological markers in PMS are relevant to iASD and predictive of treatment response with growth hormone. The long-term goal is to optimize treatment selection in iASD by establishing biological signature(s) derived from PMS. The expected outcome is to establish the feasibility of electrophysiological biomarkers for use in clinical trials in PMS and iASD, demonstrate efficacy of growth hormone in PMS and iASD, and to define a biological profile that will mark a subset of patients with iASD likely to show clinical response to growth hormone. The study will enroll 45 children (15 PMS; 30 iASD; age 2-12 years) and administer growth hormone/placebo as once daily subcutaneous injection for 12 weeks at standard doses. The study team will monitor baseline anthropometric measures, laboratory parameters for growth, IGF-1 levels, and bone age throughout the study. Evaluations will include validated behavioral scales. Visual evoked potentials (VEPs) will be used as biomarkers of visual sensory reactivity. Growth Hormone is approved by the FDA for the treatment of children with short stature due to primary growth hormone deficiency, among several other indications. It is being used off-label in the current study and is not FDA approved for use in PMS or ASD.

Conditions

• Phelan-McDermid Syndrome
• Autism Spectrum Disorder (ASD)

Interventions

Type	Name	Description
DRUG	Growth Hormone	Growth hormone will be administered subcutaneously once daily. A starting dose of 0.15 mg/kg/week divided daily for 2 weeks to ensure safety and tolerance. The dose will then be increased to 0.3 mg/kg/week for 10 weeks. Doses will be titrated based on IGF-1 levels and monitored every four weeks up to a maximum dose of 0.45 mg/kg/week based on the package insert.
DRUG	Saline	Placebo (saline) will be administered subcutaneously once daily.

Timeline

• Start date: 2022-01-19
• Primary completion: 2025-01-28
• Completion: 2025-02-05
• First posted: 2022-01-11
• Last updated: 2025-04-20

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study