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Table 3 Summary of clinical research that is on-going or completed for PMS, including both interventional and observational studies

From: Bringing everyone to the table – findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference

Study titleStudy designStatus
Interventional Studies
Growth Hormone Treatment in Children with Phelan-McDermid SyndromeRecombinant Human Growth HormoneRecruiting
Piloting Treatment with Intranasal Oxytocin in Phelan-McDermid SyndromeOxytocin vs Placebo (Saline)Recruiting
Clinical Trial in 22q13 Deletion SyndromeInsulin-like Growth Factor-1 (IFG-1)Recruiting
AMO-01 to Treat Adolescents and Adults with Phelan-McDermid Syndrome (PMS) and Co-morbid EpilepsyAMO-01Recruiting
Is there an effect of Intranasal Insulin on Development and Behavior in PMS?Intranasal InsulinCompleted
Intranasal Insulin to Improve Developmental Delay in Children with 22q13 Deletion Syndrome: An Exploratory Clinical TrialIntranasal Insulin 
Observational Studies
Mitochondrial Dysfunction in Phelan-McDermid Syndrome: Explaining Clinical Variation and Providing a Path Towards TreatmentObservationalCompleted
Mapping the Phenotype in Adults with Phelan-McDermid SyndromeObservationalRecruiting
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid SyndromeObservationalActive, Not Recruiting