Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
Status:
Recruiting
Trial end date:
2023-04-01
Target enrollment:
Participant gender:
Summary
The purpose of this study is to pilot the use of Insulin-Like Growth Factor-1 (IGF-1)
treatment in 22q13 Deletion Syndrome (Phelan-McDermid Syndrome) caused by SHANK3 gene
deficiency in order to evaluate safety, tolerability, and efficacy. IGF-1 is an injection
under the skin that contains human IGF-1. IGF-1 is approved by the FDA under the brand name
Increlex for the treatment of children with short stature due to primary IGF-1 deficiency. It
is being used off-label in the current study and is not FDA approved, nor has it yet been
studied in humans for the treatment of SHANK3 deficiency.