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 |