Table 3.

Summary of clinical research that is on-going or completed for PMS, including both interventional and observational studies

Study title	Study design	Status
Interventional Studies
Growth Hormone Treatment in Children with Phelan-McDermid Syndrome	Recombinant Human Growth Hormone	Recruiting
Piloting Treatment with Intranasal Oxytocin in Phelan-McDermid Syndrome	Oxytocin vs Placebo (Saline)	Recruiting
Clinical Trial in 22q13 Deletion Syndrome	Insulin-like Growth Factor-1 (IFG-1)	Recruiting
AMO-01 to Treat Adolescents and Adults with Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy	AMO-01	Recruiting
Is there an effect of Intranasal Insulin on Development and Behavior in PMS?	Intranasal Insulin	Completed
Intranasal Insulin to Improve Developmental Delay in Children with 22q13 Deletion Syndrome: An Exploratory Clinical Trial	Intranasal Insulin
Observational Studies
Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards Treatment	Observational	Completed
Mapping the Phenotype in Adults with Phelan-McDermid Syndrome	Observational	Recruiting
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome	Observational	Active, Not Recruiting